Nanopublications

Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }

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NP3549.RAeklCtouUfc3dDhHXl87HtOyMclVhnWh7ch4g3QoS4oE130_assertion description "[Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3549.RAeklCtouUfc3dDhHXl87HtOyMclVhnWh7ch4g3QoS4oE130_provenance.
NP3550.RAWTovXtApAfFl71q7qj8cm7gNaYkTXJyZl_X8PanzVwM130_assertion description "[Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3550.RAWTovXtApAfFl71q7qj8cm7gNaYkTXJyZl_X8PanzVwM130_provenance.
NP3565.RAV0URXfQ2lAvhhXSeWwyNjWfLNQxRShqoumxmZDWqjSw130_assertion description "[Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3565.RAV0URXfQ2lAvhhXSeWwyNjWfLNQxRShqoumxmZDWqjSw130_provenance.
NP3574.RATvHE0wxg9U06c-1GD3HmaiGNOdI2hXa-PW2_CjdhUoI130_assertion description "[Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3574.RATvHE0wxg9U06c-1GD3HmaiGNOdI2hXa-PW2_CjdhUoI130_provenance.
NP3580.RAZ6gtC4RXe5O1uzLGZ3hSMVgYc0ePuA3r1uhnyNskoFE130_assertion description "[Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3580.RAZ6gtC4RXe5O1uzLGZ3hSMVgYc0ePuA3r1uhnyNskoFE130_provenance.
NP3586.RAZCysbB0mH_mS9n7aXK6b8HyfrPNehPdi8_EvDGck2iM130_assertion description "[Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3586.RAZCysbB0mH_mS9n7aXK6b8HyfrPNehPdi8_EvDGck2iM130_provenance.
NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_assertion description "[A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3588.RAfSpAyDzZ6B9mP-pZ3jSEnxQ-Mqd-cX25xDpTam_EyS0130_provenance.
NP3593.RAQPlXBY76RxBB8cmELFs3LSLqTRtXE-ly_U1FEIIK5H8130_assertion description "[Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3593.RAQPlXBY76RxBB8cmELFs3LSLqTRtXE-ly_U1FEIIK5H8130_provenance.
NP3603.RAQAGOEIa2cjLoL7ii7Pvkg1AvPtze2jkPASVpVOjX5po130_assertion description "[Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3603.RAQAGOEIa2cjLoL7ii7Pvkg1AvPtze2jkPASVpVOjX5po130_provenance.
NP3607.RAR1srKrinkpJa1rKYS3G7aPeoylccWJzU9tBxskxWbtU130_assertion description "[Analysis of both phenotype and genotype data led to the following conclusions: (i) K6a or K16 mutations produce the pachyonychia congenita type 1 phenotype, whereas K17 (or K6b) mutations cause pachyonychia congenita type 2; (ii) the presence of pilosebaceous cysts following puberty is the best indicator of pachyonychia congenita type 2; (iii) prepubescent patients are more difficult to classify due to the lack of cysts; and (iv) natal teeth are indicative of pachyonychia congenita type 2, although their absence does not preclude the pachyonychia congenita type 2 phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3607.RAR1srKrinkpJa1rKYS3G7aPeoylccWJzU9tBxskxWbtU130_provenance.
NP3613.RAcBSQMoLnBv0c-Cgg-inz0XA4Vzph5kjgJdkeGuuncss130_assertion description "[Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3613.RAcBSQMoLnBv0c-Cgg-inz0XA4Vzph5kjgJdkeGuuncss130_provenance.
NP3615.RASAKSQPrxXdInylOGgyQc8IWGmRVCvlrmoXJsjoYu0d4130_assertion description "[New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3615.RASAKSQPrxXdInylOGgyQc8IWGmRVCvlrmoXJsjoYu0d4130_provenance.
NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_assertion description "[An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3618.RATlwPz-Uk37ReP4ELJ4wx1zknYIU38P0yPrsOKHRpDoM130_provenance.
NP3624.RAQm2cx32GUuvEp_ra-YzrgBAtKCbJYnzcxfw0K_oxLvk130_assertion description "[A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3624.RAQm2cx32GUuvEp_ra-YzrgBAtKCbJYnzcxfw0K_oxLvk130_provenance.
NP3625.RAew3fQvm3snzKlysdQnxzxspElCuxIzeLjXd5A-XOxCE130_assertion description "[Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3625.RAew3fQvm3snzKlysdQnxzxspElCuxIzeLjXd5A-XOxCE130_provenance.
NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_assertion description "[A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.
NP3643.RAQ5LkTf1uNthPgDkoxlEQ-Qo_jML69XcdmV1I0GhflH0130_assertion description "[A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3643.RAQ5LkTf1uNthPgDkoxlEQ-Qo_jML69XcdmV1I0GhflH0130_provenance.
NP3651.RAegMPXDQWytea2ZbPt_JfvnXLQIPksGCpU7YFQMnX2uc130_assertion description "[A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3651.RAegMPXDQWytea2ZbPt_JfvnXLQIPksGCpU7YFQMnX2uc130_provenance.
NP3653.RASuYP9PxB7WkKzB3CQFw6wRWApzmcPD-LGXadls8sETQ130_assertion description "[Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3653.RASuYP9PxB7WkKzB3CQFw6wRWApzmcPD-LGXadls8sETQ130_provenance.
NP3657.RARJCGg57ESwFl1_KqHYO47BSitK-7qgWcsanNbCsxDFs130_assertion description "[Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3657.RARJCGg57ESwFl1_KqHYO47BSitK-7qgWcsanNbCsxDFs130_provenance.
NP3663.RAeo2keGPY6AkkLKDqB9I8IMwt5-2ahrFVk5J7iGFtnUc130_assertion description "[Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3663.RAeo2keGPY6AkkLKDqB9I8IMwt5-2ahrFVk5J7iGFtnUc130_provenance.
NP3664.RAXTD2JiprenLk6YO_8yehA3KqKdhd5qYvJ6J-xkGKxiM130_assertion description "[Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3664.RAXTD2JiprenLk6YO_8yehA3KqKdhd5qYvJ6J-xkGKxiM130_provenance.
NP3665.RAaRGx9gKOUF4AIsASOXkSPYR3gvWNn-YKT4H_NZOwfoQ130_assertion description "[Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3665.RAaRGx9gKOUF4AIsASOXkSPYR3gvWNn-YKT4H_NZOwfoQ130_provenance.
NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_assertion description "[A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.
NP3673.RAXDVrY7pnlj0vm2Ai1jY6Vbx987pyHfY61rbgaXelFiM130_assertion description "[A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3673.RAXDVrY7pnlj0vm2Ai1jY6Vbx987pyHfY61rbgaXelFiM130_provenance.
NP3683.RATFLK1wVIOvapRKETnTAw38V9hk95bLr-hPz0fGxKI-A130_assertion description "[Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratoderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3683.RATFLK1wVIOvapRKETnTAw38V9hk95bLr-hPz0fGxKI-A130_provenance.
NP3694.RAVGSaRYmKN-nbCISCVeovU7tRJffFsh0jwD1ERSybWUw130_assertion description "[Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3694.RAVGSaRYmKN-nbCISCVeovU7tRJffFsh0jwD1ERSybWUw130_provenance.
NP3698.RAWuga6m-2_iLqoTuWlGZFtPZzw2n4WRvj9NfmVNN86aI130_assertion description "[Association of X-linked hydrocephalus and Hirschsprung disease: report of a new patient with a mutation in the L1CAM gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3698.RAWuga6m-2_iLqoTuWlGZFtPZzw2n4WRvj9NfmVNN86aI130_provenance.
NP3700.RAdmdH9kbjb9t59RulR6TSs7brvVoLMpRuC1zuM_enRKs130_assertion description "[Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3700.RAdmdH9kbjb9t59RulR6TSs7brvVoLMpRuC1zuM_enRKs130_provenance.
NP3704.RAUUvDgG25JHGQ3bKvkEugM7D0_xMF3krEYdpKcEAErrg130_assertion description "[The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3704.RAUUvDgG25JHGQ3bKvkEugM7D0_xMF3krEYdpKcEAErrg130_provenance.
NP3705.RAe6GJ8Ggu0gE-jvAMhhdMUrkTUzbKS_oj8vGRAhUzrd4130_assertion description "[Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3705.RAe6GJ8Ggu0gE-jvAMhhdMUrkTUzbKS_oj8vGRAhUzrd4130_provenance.
NP3706.RAaNtExbmiN2PC3iJ-MKN2J90vfd9RrCIhrJrLao63ME0130_assertion description "[L1-associated diseases: clinical geneticists divide, molecular geneticists unite.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3706.RAaNtExbmiN2PC3iJ-MKN2J90vfd9RrCIhrJrLao63ME0130_provenance.
NP3716.RAd8SvbtMPCp9T981gOmUUBkaz7LgihF2-2t10WNrokMU130_assertion description "[A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3716.RAd8SvbtMPCp9T981gOmUUBkaz7LgihF2-2t10WNrokMU130_provenance.
NP3724.RAQ5DMA4A0gX84aVz34AyvRmtn-k5OqVH4tZ8Pm-Xxcdw130_assertion description "[Lamin B-receptor mutations in Pelger-Hut anomaly.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3724.RAQ5DMA4A0gX84aVz34AyvRmtn-k5OqVH4tZ8Pm-Xxcdw130_provenance.
NP3725.RAY5x-mgJcMoyjS5SQOhgysHIRWoWfcEEBkmq9Fwj8zKQ130_assertion description "[LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3725.RAY5x-mgJcMoyjS5SQOhgysHIRWoWfcEEBkmq9Fwj8zKQ130_provenance.
NP3728.RAejpZHnx_BT3NCqoAbi7VqBkj1CAW3kGSzim-BHq7s1o130_assertion description "[The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3728.RAejpZHnx_BT3NCqoAbi7VqBkj1CAW3kGSzim-BHq7s1o130_provenance.
NP3732.RAdv5P4gL4wQ_BgSGqH41iEFA7EvCBwWbpNTjTx3Yy1_8130_assertion description "[High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3732.RAdv5P4gL4wQ_BgSGqH41iEFA7EvCBwWbpNTjTx3Yy1_8130_provenance.
NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_assertion description "[Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3737.RAXd5H6BzPCB0pEuZHez-X-EfccRsKLkDLUVZEfpV3c3c130_provenance.
NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_assertion description "[Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3738.RAcr_lFKuVryzwaPrj78l9gc5NgXs9j16EVj5FkXRgCEA130_provenance.
NP3741.RAdiPQ9xiQ_qkpfnvPy8tCcvw0fS9Llyxk-XSVnoWXjC4130_assertion description "[Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3741.RAdiPQ9xiQ_qkpfnvPy8tCcvw0fS9Llyxk-XSVnoWXjC4130_provenance.
NP3745.RAeU3yaYkJbD3c0t-jeirxYDaG3rpJUtcYUNajVUqnBAI130_assertion description "[A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3745.RAeU3yaYkJbD3c0t-jeirxYDaG3rpJUtcYUNajVUqnBAI130_provenance.
NP3746.RAbS8rc9FeAmzHwxZ8jO_oDcHOmJemGIc0bWWSpJNlsng130_assertion description "[Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3746.RAbS8rc9FeAmzHwxZ8jO_oDcHOmJemGIc0bWWSpJNlsng130_provenance.
NP3747.RAQrHTCjGgY09Tk3cGGrcUPLCE_tb59o02T13d6Hf5VzU130_assertion description "[Familial hypercholesterolemia (FH) caused by mutation in the LDLR gene is the most frequent form of ADH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3747.RAQrHTCjGgY09Tk3cGGrcUPLCE_tb59o02T13d6Hf5VzU130_provenance.
NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_assertion description "[Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3751.RAecchcm-8bjS_UIVJmS1Ks0vDUZoqSWgKaFsvdIRQ8JA130_provenance.
NP3754.RASbEiKu3HYq1hGOM59vHrwqbeTg3-JSBwpyJrtjm7BsU130_assertion description "[Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3754.RASbEiKu3HYq1hGOM59vHrwqbeTg3-JSBwpyJrtjm7BsU130_provenance.
NP3759.RAZUTZariXYEftJgfP9Q-L2PGwwaDVQ8e6UTQ8x58DHfI130_assertion description "[The uncommon clinical pattern (high seizure frequency, drug-resistance) highlights the variability of the ADLTE phenotype and extends our knowledge of the clinical spectrum associated with LGI1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3759.RAZUTZariXYEftJgfP9Q-L2PGwwaDVQ8e6UTQ8x58DHfI130_provenance.
NP3761.RAYA8waOQ442uypE9AivMpKZnp8AlLdO2ohHcTF8RKdMs130_assertion description "[A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3761.RAYA8waOQ442uypE9AivMpKZnp8AlLdO2ohHcTF8RKdMs130_provenance.
NP3763.RAdTSXG_6Wlc3hqkf6LQev7bMEhJzU5Xrzdtx3rg9rVj0130_assertion description "[Two novel epilepsy-linked mutations leading to a loss of function of LGI1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3763.RAdTSXG_6Wlc3hqkf6LQev7bMEhJzU5Xrzdtx3rg9rVj0130_provenance.
NP3764.RAQvH8zzRmELLOch4hxY7QQKza0MBIsJJa8mZugl5Xgzo130_assertion description "[The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3764.RAQvH8zzRmELLOch4hxY7QQKza0MBIsJJa8mZugl5Xgzo130_provenance.
NP3772.RAXIyfVUxEMBq_NXZgyTpEt-OUui5bt_Pjlivy_n_3r5A130_assertion description "[Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3772.RAXIyfVUxEMBq_NXZgyTpEt-OUui5bt_Pjlivy_n_3r5A130_provenance.
NP3773.RAYYV_YLRsWJfedcEO74_oCRwmLvwxDqur8-CS8ATPqEQ130_assertion description "[Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3773.RAYYV_YLRsWJfedcEO74_oCRwmLvwxDqur8-CS8ATPqEQ130_provenance.
NP3775.RATYcpdTzYL85qXdLprNNwuAq-FsqvxnYiw4b283ENwkI130_assertion description "[A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3775.RATYcpdTzYL85qXdLprNNwuAq-FsqvxnYiw4b283ENwkI130_provenance.
NP3783.RAcMSghI3IQ4RUTFFmzqaeSq-1bBv1V9Mbj4Gq9vJMsJo130_assertion description "[A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3783.RAcMSghI3IQ4RUTFFmzqaeSq-1bBv1V9Mbj4Gq9vJMsJo130_provenance.
NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_assertion description "[DNA sequence analysis of TMHS revealed a homozygous frameshift mutation (246delC) and a missense mutation (Y127C) in affected individuals of two families segregating non-syndromic deafness, one of which showed significant evidence of linkage to markers in the DFNB67 interval.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3787.RAcCVBPbWh60XWfdU8wZckZxZ6vS_X2fXrHlWzpgKoqQs130_provenance.
NP3789.RASQsbnpVLPwSz21CZ76tFP1TPAhm-ke2623e4QwM-TeY130_assertion description "[Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3789.RASQsbnpVLPwSz21CZ76tFP1TPAhm-ke2623e4QwM-TeY130_provenance.
NP3791.RAY-KcaB5zR_JYb2JeFwNZeSnrB1CIm97YyZRh_mbTxb8130_assertion description "[Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3791.RAY-KcaB5zR_JYb2JeFwNZeSnrB1CIm97YyZRh_mbTxb8130_provenance.
NP3796.RAf4begetxn896F0NPrOfKEjsmtB9_M0cCXrWF8O8mFRo130_assertion description "[Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3796.RAf4begetxn896F0NPrOfKEjsmtB9_M0cCXrWF8O8mFRo130_provenance.
NP3800.RAXdBjNvP-y0H7mgadHOvAA4w1d0OpNFCsSdVbNO1YY9Q130_assertion description "[Recently, SIMPLE/LITAF was shown to be responsible for an autosomal dominant demyelinating form of CMT linked to 16p (CMT1C).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3800.RAXdBjNvP-y0H7mgadHOvAA4w1d0OpNFCsSdVbNO1YY9Q130_provenance.
NP3806.RAW_CKDuWtuhSkM_uFinwgMBXAAmf9nHkUQ8ByshRgBAw130_assertion description "[A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3806.RAW_CKDuWtuhSkM_uFinwgMBXAAmf9nHkUQ8ByshRgBAw130_provenance.
NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_assertion description "[Autosomal dominant Emery-Dreifuss muscular dystrophy is caused by mutations in the LMNA gene, which encodes lamin A and lamin C. Mutations in this gene also give rise to limb girdle muscular dystrophy type 1B, dilated cardiomyopathy with atrioventricular conduction defect and Dunnigan-type partial lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3809.RAe5zycuJzn1PARqzhCrut3T53XmWvYj3GBTEO6QHX3bo130_provenance.
NP3814.RAUfzn2g7yrMugpzqEOIPLhEc5_f2RT7wnP3yrPuHyVco130_assertion description "[Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3814.RAUfzn2g7yrMugpzqEOIPLhEc5_f2RT7wnP3yrPuHyVco130_provenance.
NP3818.RAULL8yMLPG8m-vOGSE2WZXmcyuiWaIFcMn-RF0PfZYxc130_assertion description "[Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3818.RAULL8yMLPG8m-vOGSE2WZXmcyuiWaIFcMn-RF0PfZYxc130_provenance.
NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_assertion description "[This is the first report of muscular dystrophy shown to have a mutation of LMNA in a Japanese family as well as the first case of missense mutation in the exon 8 with LGMD1B phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3834.RAV9O3OMd5tfY5PVQTC6Hx22R0EVIhw113-57QIYLG-Kk130_provenance.
NP3836.RAUExXSgFhS1IG5l928xRzY_CA9O8ABdld9Tfg3HJUtiI130_assertion description "[LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3836.RAUExXSgFhS1IG5l928xRzY_CA9O8ABdld9Tfg3HJUtiI130_provenance.
NP3837.RAUNJVu5kT-61H_A1kLJOYUMhRFJ5pf2pPKK28pVUOUZk130_assertion description "[LMNA mutations in atypical Werner's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3837.RAUNJVu5kT-61H_A1kLJOYUMhRFJ5pf2pPKK28pVUOUZk130_provenance.
NP3839.RASf1jQyf_55tU9xIFgCHGlpToIgm-E1JbIiaeIUbdt3Y130_assertion description "[LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3839.RASf1jQyf_55tU9xIFgCHGlpToIgm-E1JbIiaeIUbdt3Y130_provenance.
NP3852.RAUVD2FvQYukKYc0U2cZrrbNgOuVel7j7d25iK10pfE-o130_assertion description "[We conclude that homozygous mutations in LPIN2 result in Majeed syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3852.RAUVD2FvQYukKYc0U2cZrrbNgOuVel7j7d25iK10pfE-o130_provenance.
NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_assertion description "[By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3864.RAdvLSegtC-AEvDo0yFgvIcCa1JBTxd7uFLKT3PxnGzD8130_provenance.
NP3866.RAaPFdmQ_G03i3zxmOJ5Hju5xcF3h8lWEiPVgutwXpjSg130_assertion description "[Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3866.RAaPFdmQ_G03i3zxmOJ5Hju5xcF3h8lWEiPVgutwXpjSg130_provenance.
NP3868.RASo5cLZGOKjNw_kmrrxhXIxICeumvBO0xiAJ2rSinWBY130_assertion description "[Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3868.RASo5cLZGOKjNw_kmrrxhXIxICeumvBO0xiAJ2rSinWBY130_provenance.
NP3885.RAShlSvRhy1CgL69AIl91NEMBusWrEJxWGodmXiBrNvMM130_assertion description "[LRP6 mutation in a family with early coronary disease and metabolic risk factors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3885.RAShlSvRhy1CgL69AIl91NEMBusWrEJxWGodmXiBrNvMM130_provenance.
NP3887.RAX8IXIiPNge15g092aTgsl0w__pulCKCs5j98pav4m8U130_assertion description "[Analysis of LRRK2 functional domains in nondominant Parkinson disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3887.RAX8IXIiPNge15g092aTgsl0w__pulCKCs5j98pav4m8U130_provenance.
NP3897.RAVpV9vU-ZP3Gj6pNZ5geqfaNFGBH77lr0Or8BCtyWD4g130_assertion description "[A catechol-O-methyltransferase that is essential for auditory function in mice and humans.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3897.RAVpV9vU-ZP3Gj6pNZ5geqfaNFGBH77lr0Or8BCtyWD4g130_provenance.
NP3899.RAW_Zq_sBkjBFpuGPRz5OW9ZsIxJtupCiLbpEJH9xRJwc130_assertion description "[Mutations in LTBP4 cause a syndrome of impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3899.RAW_Zq_sBkjBFpuGPRz5OW9ZsIxJtupCiLbpEJH9xRJwc130_provenance.
NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion description "[In patients with severe childhood CHS, we found only functionally null mutant CHS1 alleles, whereas in patients with the adolescent and adult forms of CHS we also found missense mutant alleles that likely encode CHS1 polypeptides with partial function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance.
NP3901.RAXQT7HxLt1-Pmg7lCeL63rHXqjouUD07LMkTawWlcVgk130_assertion description "[Human lysozyme gene mutations cause hereditary systemic amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3901.RAXQT7HxLt1-Pmg7lCeL63rHXqjouUD07LMkTawWlcVgk130_provenance.
NP3903.RAZxg9s_e8gxnkBQjpGu2R8BNZWbK5UlhqNdSYLOzoUWE130_assertion description "[Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3903.RAZxg9s_e8gxnkBQjpGu2R8BNZWbK5UlhqNdSYLOzoUWE130_provenance.
NP3905.RARzkETTugaMS0DD-JGAYLQuTUmRG-t0CDJGIeifp4XIM130_assertion description "[Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3905.RARzkETTugaMS0DD-JGAYLQuTUmRG-t0CDJGIeifp4XIM130_provenance.
NP3919.RAVTIdBIkDU4xOx4i0N9rO7QlZZLJv_5fxoBTPr7FMChA130_assertion description "[Pick's disease associated with the novel Tau gene mutation K369I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3919.RAVTIdBIkDU4xOx4i0N9rO7QlZZLJv_5fxoBTPr7FMChA130_provenance.
NP3920.RAQNVuXIQ7iN1ugCbsccwf5ZE4dWbQ97__ge3LDjBmo_s130_assertion description "[High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3920.RAQNVuXIQ7iN1ugCbsccwf5ZE4dWbQ97__ge3LDjBmo_s130_provenance.
NP3927.RAVijhNIE8BCwLgmDDnPhlc7eOnxDV0WqdcQLoD7nAxfw130_assertion description "[Mutations in the tau gene cause frontotemporal dementia and parkinsonism linked to chromosome-17 (FTDP-17).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3927.RAVijhNIE8BCwLgmDDnPhlc7eOnxDV0WqdcQLoD7nAxfw130_provenance.
NP3928.RAWdboiWX8pbQ7LbvH4dmoNscpNPo0_HiMBOfMfKrf0Qc130_assertion description "[Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3928.RAWdboiWX8pbQ7LbvH4dmoNscpNPo0_HiMBOfMfKrf0Qc130_provenance.
NP3935.RAaHlya54DvU5QshlOfMi3YCkHza3tTGgG_OnAPzz-PAY130_assertion description "[Our findings demonstrate that isolated persistent hypermethioninemia is a marker of MAT I/III deficiency, and that complete lack of MAT I/III activity can lead to neurological abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3935.RAaHlya54DvU5QshlOfMi3YCkHza3tTGgG_OnAPzz-PAY130_provenance.
NP3937.RAZZSB-ex0vRQtF3bCpEb_G4v_QaQeMebM4VOsQxVxWx8130_assertion description "[Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3937.RAZZSB-ex0vRQtF3bCpEb_G4v_QaQeMebM4VOsQxVxWx8130_provenance.
NP3941.RAX21kEDN05_tPanNSS6wQu9Zgg0iEAQD906QF2LoABUQ130_assertion description "[Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3941.RAX21kEDN05_tPanNSS6wQu9Zgg0iEAQD906QF2LoABUQ130_provenance.
NP3943.RAcF7vL_cAG6NXdSgfG_jTcSCLFanUXIysas_U-2veWeo130_assertion description "[Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3943.RAcF7vL_cAG6NXdSgfG_jTcSCLFanUXIysas_U-2veWeo130_provenance.
NP3944.RAcCA6NUetZrCvaMiG6lw9Yd1EI7sGMQWDkAxmfv_cFJw130_assertion description "[IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3944.RAcCA6NUetZrCvaMiG6lw9Yd1EI7sGMQWDkAxmfv_cFJw130_provenance.
NP3946.RATVD3PwsgDftbdJZuFE3EJ6YCDacedWIaMNNfBo3rCWE130_assertion description "[Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3946.RATVD3PwsgDftbdJZuFE3EJ6YCDacedWIaMNNfBo3rCWE130_provenance.
NP3950.RAd8XqCdwuCslNqY9WXBtxqLU1yKuEPt_7-B1P6m6hzEg130_assertion description "[Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3950.RAd8XqCdwuCslNqY9WXBtxqLU1yKuEPt_7-B1P6m6hzEg130_provenance.
NP3953.RAWRmFIO_p-Vx-s34zdYeBaRzRmky0v1e043Wt4k8iD-Q130_assertion description "[A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3953.RAWRmFIO_p-Vx-s34zdYeBaRzRmky0v1e043Wt4k8iD-Q130_provenance.
NP3958.RASD5zVgVUWYz1niz5OuumOIS2jjUrjnyGj2weZJ9Vo74130_assertion description "[Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3958.RASD5zVgVUWYz1niz5OuumOIS2jjUrjnyGj2weZJ9Vo74130_provenance.
NP3960.RAU7fVn-X3asAYKqJ97ONP1Dh17n74JyNpXPKnZAtvUx0130_assertion description "[The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3960.RAU7fVn-X3asAYKqJ97ONP1Dh17n74JyNpXPKnZAtvUx0130_provenance.
NP3961.RAdR1CQhLmC_DxpK4a-fdj7L9_VUwIjxPsnijyNyKqPpg130_assertion description "[These data provide evidence that human MCC deficiency is caused by mutations in either the MCCA or MCCB gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3961.RAdR1CQhLmC_DxpK4a-fdj7L9_VUwIjxPsnijyNyKqPpg130_provenance.
NP3963.RAcGX_BgwWotUYLdRvfK5GwlAFLIykAq0DCP8ArG5Nroo130_assertion description "[The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3963.RAcGX_BgwWotUYLdRvfK5GwlAFLIykAq0DCP8ArG5Nroo130_provenance.
NP3977.RAc6w-TSbA21uR1upu8nWYBqeYFQI7jmGdltNfYz4d_nI130_assertion description "[Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3977.RAc6w-TSbA21uR1upu8nWYBqeYFQI7jmGdltNfYz4d_nI130_provenance.
NP3981.RAacbk7B9dKcp2Z7yFmyG1c0LNPMrsvRQmzLlNuZClyhU130_assertion description "[Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3981.RAacbk7B9dKcp2Z7yFmyG1c0LNPMrsvRQmzLlNuZClyhU130_provenance.
NP3992.RAWOyPfyokqIEzB6SvlmqNb83-ObFEbcRMtlU5AJvLzWo130_assertion description "[MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3992.RAWOyPfyokqIEzB6SvlmqNb83-ObFEbcRMtlU5AJvLzWo130_provenance.
NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_assertion description "[The present study reports the frequencies of MEFV mutations in 558 Lebanese and 55 Jordanian FMF patients and points out the severity of the M694V frequently observed mutation among these patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3997.RAU12B0G9HbXDxdrtLdeeyl6obltkIF1knyG96vVJS7SE130_provenance.
NP4000.RAXd_1u6qGD-Oh_1PsCV4swEYaHp9GJOw63oOWz-330z8130_assertion description "[Familial Mediterranean fever in the 'Chuetas' of Mallorca: a question of Jewish origin or genetic heterogeneity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4000.RAXd_1u6qGD-Oh_1PsCV4swEYaHp9GJOw63oOWz-330z8130_provenance.
NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_assertion description "[We identified 12 different MEN1 disease-causing mutations, seven of them previously unreported: 308delC; 375del21; 549A>T (I147F); 1243delA; 1348T>G (L413R); 1351T>C (L414P) and 1523G>T (W471C).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4005.RAR37BUWOX6HrSIWkN2SaE2qqO9UmxfA4sKhcy-leVn9M130_provenance.

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