Nanopublications LDF server

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

• NP3264.RAzbD6OJ7Dl4TJnjUMg7X7iyemCfGewF-cRd7rVbxEggE130_assertion description "[A novel mutation of the insulin-like 3 gene in patients with cryptorchidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3264.RAzbD6OJ7Dl4TJnjUMg7X7iyemCfGewF-cRd7rVbxEggE130_provenance.
• NP3272.RA1u3TF53UefsvXEixbPjgqh-OGuuS6UpAnrvz01FYSfA130_assertion description "[Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3272.RA1u3TF53UefsvXEixbPjgqh-OGuuS6UpAnrvz01FYSfA130_provenance.
• NP3280.RA1ZYjS_BmUapF6m3m1L7RyWdRo7uEdT26oKRbnPc__k0130_assertion description "[Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3280.RA1ZYjS_BmUapF6m3m1L7RyWdRo7uEdT26oKRbnPc__k0130_provenance.
• NP3281.RA6cDW7oSys06PAvrXMW_59IOjEAb72vHlWaYQ66-ay5U130_assertion description "[Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3281.RA6cDW7oSys06PAvrXMW_59IOjEAb72vHlWaYQ66-ay5U130_provenance.
• NP3285.RAx3d3Lx4-Z_m-RppcCX0mYP7vXDdC7SONALb1paknEkc130_assertion description "[In a patient with Leprechaunism, we have characterized a new mutation in the insulin receptor substituting Arg for Gly at position 31.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3285.RAx3d3Lx4-Z_m-RppcCX0mYP7vXDdC7SONALb1paknEkc130_provenance.
• NP3296.RA5FRO9FW0yapTnzvQDqoH63GHYVPB6AgstF6m69tzJUY130_assertion description "[NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3296.RA5FRO9FW0yapTnzvQDqoH63GHYVPB6AgstF6m69tzJUY130_provenance.
• NP3301.RA6Yb27kxMb4U69UYpIV53wuQPCIpmYUlFswqNAnpDJ4M130_assertion description "[Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3301.RA6Yb27kxMb4U69UYpIV53wuQPCIpmYUlFswqNAnpDJ4M130_provenance.
• NP3302.RAzwJOmI5UUe76DXgWyRm1SohlCyH-KBCgkEQ3gZnFD90130_assertion description "[Functionally inactivating point mutation in the tumor-suppressor IRF-1 gene identified in human gastric cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3302.RAzwJOmI5UUe76DXgWyRm1SohlCyH-KBCgkEQ3gZnFD90130_provenance.
• NP3310.RA4giFlde-Vr7qAoZRWoHTqCH4g9CoCJdwF2uQnWtgVO4130_assertion description "[Van der Woude syndrome (VWS) is an autosomal-dominant oral facial disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3310.RA4giFlde-Vr7qAoZRWoHTqCH4g9CoCJdwF2uQnWtgVO4130_provenance.
• NP3312.RA1zHzBZJBi7gzGm7lrUfD8ulKr7wEiFBPHn8KSLIzxes130_assertion description "[Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3312.RA1zHzBZJBi7gzGm7lrUfD8ulKr7wEiFBPHn8KSLIzxes130_provenance.
• NP3319.RA-XBrE93SEUveAYREwVLuaAciNs2XUArQpDk2vAGfvs0130_assertion description "[AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3319.RA-XBrE93SEUveAYREwVLuaAciNs2XUArQpDk2vAGfvs0130_provenance.
• NP3330.RA-X1V8XPhOPpUkEel_jkMyq55nr6CwJ06I-898zaklDY130_assertion description "[The description of an identical mutation at residue 169 in an unrelated severe LAD patient raises the possibility that severe LAD type V is caused by a unique genetic defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3330.RA-X1V8XPhOPpUkEel_jkMyq55nr6CwJ06I-898zaklDY130_provenance.
• NP3335.RA-CPrZ307SEt366HOVEHMxOY5hI3Fv24B-h1Fb99K8yE130_assertion description "[In the leukocyte adhesion deficiency (LAD)-1 syndrome, there is diminished expression of beta2(CD18) integrins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3335.RA-CPrZ307SEt366HOVEHMxOY5hI3Fv24B-h1Fb99K8yE130_provenance.
• NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_assertion description "[Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, autosomal recessive inherited immunodeficiency disease characterized by recurrent severe bacterial infection, impaired pus formation, poor wound healing, associated with the mutation in the CD18 gene responsible for the ability of the leucocytes to migrate from the blood stream towards the site of inflammation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3337.RA6NuW6Nenh8BTg5CpXYpvxnfjsOzWrh0zihqqUOvv7ow130_provenance.
• NP3339.RA11pljsVB5rlDbOtZV0xAAiLAPwkKzSqEkfkgfcmtOpU130_assertion description "[Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3339.RA11pljsVB5rlDbOtZV0xAAiLAPwkKzSqEkfkgfcmtOpU130_provenance.
• NP3341.RA2D3TqaJIHtvqfE432dWqAwZHC1ckGDQ4UqFIX2FaqEQ130_assertion description "[Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3341.RA2D3TqaJIHtvqfE432dWqAwZHC1ckGDQ4UqFIX2FaqEQ130_provenance.
• NP3343.RA2SnwqmeBpfUZ1fnIQB95T74edCbSSdIjfF6ngbSEUig130_assertion description "[A variant thrombasthenic phenotype associated with compound heterozygosity of integrin beta3-subunit: (Met124Val)beta3 alters the subunit dimerization rendering a decreased number of constitutive active alphaIIbbeta3 receptors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3343.RA2SnwqmeBpfUZ1fnIQB95T74edCbSSdIjfF6ngbSEUig130_provenance.
• NP3347.RA1YBcCZUI4Q_ZzR6x83u9HqNilmMJo0IjxHjQ0M7z2Ac130_assertion description "[Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3347.RA1YBcCZUI4Q_ZzR6x83u9HqNilmMJo0IjxHjQ0M7z2Ac130_provenance.
• NP3348.RA0DAI4SbYU8U-zAR4eUfYPnWsbYDn6e8NBCIsT1WEdZg130_assertion description "[Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3348.RA0DAI4SbYU8U-zAR4eUfYPnWsbYDn6e8NBCIsT1WEdZg130_provenance.
• NP3356.RAxlZ3uJkGJ5lQMKC95pilOWNNnuciiOOlwAYLerYegA8130_assertion description "[DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3356.RAxlZ3uJkGJ5lQMKC95pilOWNNnuciiOOlwAYLerYegA8130_provenance.
• NP3359.RA5_eD_g5GCzdrbMN1-rqsaDmL6fqPsrMbvNqG1Wt6j68130_assertion description "[Isovaleric acidemia (IVA) is an inborn error of leucine metabolism and is caused by a genetically determined deficiency of isovaleryl-CoA dehydrogenase (IVD), a mitochondrial matrix enzyme.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3359.RA5_eD_g5GCzdrbMN1-rqsaDmL6fqPsrMbvNqG1Wt6j68130_provenance.
• NP3362.RA8ojkAXaPqk9VlifrCWucKmQHz-ZUHZwHPyA7Gx-hjTo130_assertion description "[Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3362.RA8ojkAXaPqk9VlifrCWucKmQHz-ZUHZwHPyA7Gx-hjTo130_provenance.
• NP3366.RA5paba85XohBmZUr7Qgxj8x9CJ1cprucky-u8nlvtrOg130_assertion description "[DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3366.RA5paba85XohBmZUr7Qgxj8x9CJ1cprucky-u8nlvtrOg130_provenance.
• NP3367.RAyRxzXHykRpSCBMJ_ZuzWmXknpuc-7nKRHM9-gWKH1Ok130_assertion description "[Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3367.RAyRxzXHykRpSCBMJ_ZuzWmXknpuc-7nKRHM9-gWKH1Ok130_provenance.
• NP3371.RA3rGgKpP8CxKQbEP3ZhkPq8T3KMiqzsnBu9vkYMhLrVo130_assertion description "[Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3371.RA3rGgKpP8CxKQbEP3ZhkPq8T3KMiqzsnBu9vkYMhLrVo130_provenance.
• NP3373.RAzlzy9fDudpeKs0ez-JmKYl_4hc2LaGV2eSJslrb8O9k130_assertion description "[The JAK2 V617F mutation in de novo acute myelogenous leukemias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3373.RAzlzy9fDudpeKs0ez-JmKYl_4hc2LaGV2eSJslrb8O9k130_provenance.
• NP3382.RAwlhyfg4YYhnKKsihTARaQLW-CPbRU6lcV3QWkFqhGFQ130_assertion description "[A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3382.RAwlhyfg4YYhnKKsihTARaQLW-CPbRU6lcV3QWkFqhGFQ130_provenance.
• NP3387.RA6YxJSrKtcb75VPduxG2SQHvNJ-Zq51cbRsmsiFVi_Ig130_assertion description "[Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3387.RA6YxJSrKtcb75VPduxG2SQHvNJ-Zq51cbRsmsiFVi_Ig130_provenance.
• NP3389.RA8WeQaBFpXA1hzllJkgD_7W8lmMNYDfFs6hALjHDjXPE130_assertion description "[Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3389.RA8WeQaBFpXA1hzllJkgD_7W8lmMNYDfFs6hALjHDjXPE130_provenance.
• NP3390.RA3TE4Z9CKzXqo2LF37sdBQuCKRPaZOtcZGyiql6fdbJA130_assertion description "[The functional role of KBTBD13 in skeletal muscle and the pathogenesis of NEM6 are subjects for further studies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3390.RA3TE4Z9CKzXqo2LF37sdBQuCKRPaZOtcZGyiql6fdbJA130_provenance.
• NP3398.RA6JGh39ITf0Zq_EMg75yVg6ZDkGS63wEsGg_7FmO2584130_assertion description "[Numerous missense mutations have been described previously in KCNA1 that cause EA1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3398.RA6JGh39ITf0Zq_EMg75yVg6ZDkGS63wEsGg_7FmO2584130_provenance.
• NP3400.RA8JQ8g98obL424EnNlESf-ZUxfC1V-KW7tNnpGf3w8xA130_assertion description "[A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3400.RA8JQ8g98obL424EnNlESf-ZUxfC1V-KW7tNnpGf3w8xA130_provenance.
• NP3402.RA8pxDN6p2PwukfVfXx4RxuCQd-wNK-8QX_dv9luKVQpo130_assertion description "[KCNE1 mutations cause jervell and Lange-Nielsen syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3402.RA8pxDN6p2PwukfVfXx4RxuCQd-wNK-8QX_dv9luKVQpo130_provenance.
• NP3406.RAxMhGxCp0GB5OXtASYIlcFZFykeTOAZPDw1tytHu3d3s130_assertion description "[Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3406.RAxMhGxCp0GB5OXtASYIlcFZFykeTOAZPDw1tytHu3d3s130_provenance.
• NP3407.RA80DLGOhhAgXfO-_d1Nr4MV1HLG-wkUmpeiWwInpVWi0130_assertion description "[A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3407.RA80DLGOhhAgXfO-_d1Nr4MV1HLG-wkUmpeiWwInpVWi0130_provenance.
• NP3408.RA8SR7NnZrIkaf_rfA97JB2KuseHeN3YVjv96WXV25UCg130_assertion description "[MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3408.RA8SR7NnZrIkaf_rfA97JB2KuseHeN3YVjv96WXV25UCg130_provenance.
• NP3411.RA4ROCveB0iF-6gH7xj59Ba_9t_YUUmHMqHGyNNFWlJ6M130_assertion description "[Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3411.RA4ROCveB0iF-6gH7xj59Ba_9t_YUUmHMqHGyNNFWlJ6M130_provenance.
• NP3414.RA82uFIKHyXKngt1_6l-xXwYNc30xP9M6krpJwIkKRA44130_assertion description "[Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3414.RA82uFIKHyXKngt1_6l-xXwYNc30xP9M6krpJwIkKRA44130_provenance.
• NP3425.RAxnpz1-aEvGY-SuG4Hz39CiR-2yQff_jo6RXo8DAigYM130_assertion description "[Mutations in KCNJ10 cause a specific disorder, consisting of epilepsy, ataxia, sensorineural deafness, and tubulopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3425.RAxnpz1-aEvGY-SuG4Hz39CiR-2yQff_jo6RXo8DAigYM130_provenance.
• NP3435.RAzizzuP6-ALoPQVA_xtGYbYPnuFoWW8Mxl4bSqTJfX98130_assertion description "[Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3435.RAzizzuP6-ALoPQVA_xtGYbYPnuFoWW8Mxl4bSqTJfX98130_provenance.
• NP3441.RA_LSb_BTxW1evnLZICbMaoP2FosXDJA5jGVB9LTHtOmw130_assertion description "[Relapsing diabetes can result from moderately activating mutations in KCNJ11.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3441.RA_LSb_BTxW1evnLZICbMaoP2FosXDJA5jGVB9LTHtOmw130_provenance.
• NP3449.RAw1GcKFmXWjogGD8T9c6HSAhHZ7MlZ7E1-X5Cn6Pjq4o130_assertion description "[KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3449.RAw1GcKFmXWjogGD8T9c6HSAhHZ7MlZ7E1-X5Cn6Pjq4o130_provenance.
• NP3450.RAz-lnPhfkZSruMugrISTHgMSm6KSMQvYqVEQVH6_bv54130_assertion description "[Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3450.RAz-lnPhfkZSruMugrISTHgMSm6KSMQvYqVEQVH6_bv54130_provenance.
• NP3461.RA8h8nkylHzCBoS_Rly1O5Gge9svqRiWQg_Q-E72OBuZ4130_assertion description "[Here we report a genetic locus associated with a human syndrome of coexistent generalized epilepsy and paroxysmal dyskinesia on chromosome 10q22 and show that a mutation of the alpha subunit of the BK channel causes this syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3461.RA8h8nkylHzCBoS_Rly1O5Gge9svqRiWQg_Q-E72OBuZ4130_provenance.
• NP3465.RA_mvaIwxHfws1guUwPjW_6TfX4zeZzSLSXhu2uK1W2nM130_assertion description "[A cardiac channel gene screen for LQTS-causing mutations in KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6) was performed for 541 consecutive, unrelated patients (358 females, average age at diagnosis 24 +/- 16 years, average QTc 482 +/- 57 ms) referred to Mayo Clinic's Sudden Death Genomics Laboratory for LQTS genetic testing between August 1997 and July 2004.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3465.RA_mvaIwxHfws1guUwPjW_6TfX4zeZzSLSXhu2uK1W2nM130_provenance.
• NP3466.RA5hzmcEfymI-LJycJ9ZdYiYmHmh-xmi6Q-EP7fgKsJnA130_assertion description "[Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3466.RA5hzmcEfymI-LJycJ9ZdYiYmHmh-xmi6Q-EP7fgKsJnA130_provenance.
• NP3470.RA5boR8W9n9W4L48ziuY2flW0IpUBdVkIc4AZGZcyEk88130_assertion description "[High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3470.RA5boR8W9n9W4L48ziuY2flW0IpUBdVkIc4AZGZcyEk88130_provenance.
• NP3471.RA3V4pCcn-ELPU8KHWOylhUt2BKPz3w1y44-rx-C6q5AQ130_assertion description "[Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3471.RA3V4pCcn-ELPU8KHWOylhUt2BKPz3w1y44-rx-C6q5AQ130_provenance.
• NP3472.RAwpBPRmiFksxS1SF6Rx-Q0IXRvvLJn9ClybdToSSw8LQ130_assertion description "[Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3472.RAwpBPRmiFksxS1SF6Rx-Q0IXRvvLJn9ClybdToSSw8LQ130_provenance.
• NP3477.RA4SKYlaYX3z6SzIR2ImG5Fuc-YcpHMSspEJPDaJwuh6s130_assertion description "[KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3477.RA4SKYlaYX3z6SzIR2ImG5Fuc-YcpHMSspEJPDaJwuh6s130_provenance.
• NP3481.RAwQPX1NIUo-a0TnrdLZjJ545tpZjxBr8aPPhX76N9IbI130_assertion description "[A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3481.RAwQPX1NIUo-a0TnrdLZjJ545tpZjxBr8aPPhX76N9IbI130_provenance.
• NP3482.RA130Qe0Clpg_0YOaWDeMocRVhlvm08x6dnrSsOHlzhEU130_assertion description "[KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3482.RA130Qe0Clpg_0YOaWDeMocRVhlvm08x6dnrSsOHlzhEU130_provenance.
• NP3487.RA1_SzckfvL0v2O_cl9dgdnkxDbTnLP3Z_dNh7xjBBmeE130_assertion description "[Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3487.RA1_SzckfvL0v2O_cl9dgdnkxDbTnLP3Z_dNh7xjBBmeE130_provenance.
• NP3491.RA4jQXpFDTiNqcCfZPR04kA68gG-eYjrB2fro2D-4bsyw130_assertion description "[Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3491.RA4jQXpFDTiNqcCfZPR04kA68gG-eYjrB2fro2D-4bsyw130_provenance.
• NP3496.RAzy9oQxty5Jl_vExthHZ55Qj62PHTp95_F9vPq6-s0Cs130_assertion description "[Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3496.RAzy9oQxty5Jl_vExthHZ55Qj62PHTp95_F9vPq6-s0Cs130_provenance.
• NP3498.RA6On_aUnrorkJx-HuEqwc51ohTPu1jB1vsIT1nTqlShc130_assertion description "[Mutations in KERA, encoding keratocan, cause cornea plana.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3498.RA6On_aUnrorkJx-HuEqwc51ohTPu1jB1vsIT1nTqlShc130_provenance.
• NP3499.RAxfO_zhxQo22XCDjiF7WlEOSVXKdSR-cF605ADq5xL7s130_assertion description "[Direct evidence that mutation of the KHK structural gene is the cause of essential fructosuria was also obtained.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3499.RAxfO_zhxQo22XCDjiF7WlEOSVXKdSR-cF605ADq5xL7s130_provenance.
• NP3500.RA96FD4VWZW6M4MFRqmSO_Itm35VDM1PqwhOscYk1qz0Q130_assertion description "[Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3500.RA96FD4VWZW6M4MFRqmSO_Itm35VDM1PqwhOscYk1qz0Q130_provenance.
• NP3504.RA0l1rt41IpQxTVAzYF0YeDr4p8HOo5pzeJRHDp3-jz1s130_assertion description "[Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3504.RA0l1rt41IpQxTVAzYF0YeDr4p8HOo5pzeJRHDp3-jz1s130_provenance.
• NP3509.RA6IDSE5DwS2OMO7jWZ5Ur293gFrmzy7bswbDkhHDaU_E130_assertion description "[It is linked to at least 30 loci, among them SPG10, which causes dominant forms and originates in point mutations in the neuronal Kinesin-1 gene (KIF5A).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3509.RA6IDSE5DwS2OMO7jWZ5Ur293gFrmzy7bswbDkhHDaU_E130_provenance.
• NP3515.RA5jNMOZqTxR_CdbbgPinE7I96wlu_8yeegW5ba5K0GWE130_assertion description "[KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3515.RA5jNMOZqTxR_CdbbgPinE7I96wlu_8yeegW5ba5K0GWE130_provenance.
• NP3528.RA_4gKOsSsMJ5Pk1Sim5yQMlG7aBZplIKNjwenmZFnsYA130_assertion description "[Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3528.RA_4gKOsSsMJ5Pk1Sim5yQMlG7aBZplIKNjwenmZFnsYA130_provenance.
• NP3532.RA4oqaXBxMf_L7IMP04X9EizrGIHG_jN3SeNcgZFDc7TU130_assertion description "[Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3532.RA4oqaXBxMf_L7IMP04X9EizrGIHG_jN3SeNcgZFDc7TU130_provenance.
• NP3533.RA64lNUqma9PHrs4Rv5lnSVMGALduM-xknYWRSfqKjSGI130_assertion description "[KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3533.RA64lNUqma9PHrs4Rv5lnSVMGALduM-xknYWRSfqKjSGI130_provenance.
• NP3552.RA62WLJgBhYaaP_Axnsdp1rqFkGl6OlnYGg0dpjjYU9Vs130_assertion description "[Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3552.RA62WLJgBhYaaP_Axnsdp1rqFkGl6OlnYGg0dpjjYU9Vs130_provenance.
• NP3558.RAzDpdlBOFTsdX8QE44gj41SUTE_87tPm2p8PW5JmciRs130_assertion description "[Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3558.RAzDpdlBOFTsdX8QE44gj41SUTE_87tPm2p8PW5JmciRs130_provenance.
• NP3564.RA-2zIhZqpcMiYQRQaHn786aE9cyeN0fVyTlzsuEtw4BE130_assertion description "[Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3564.RA-2zIhZqpcMiYQRQaHn786aE9cyeN0fVyTlzsuEtw4BE130_provenance.
• NP3566.RAzl01Z1sY-sd1OJMnkeXWDszHytXa7i4EkiKtWtD1yNQ130_assertion description "[A novel mutation in the keratin 13 gene causing oral white sponge nevus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3566.RAzl01Z1sY-sd1OJMnkeXWDszHytXa7i4EkiKtWtD1yNQ130_provenance.
• NP3576.RA-IHZfkfCgs_jLJWxFsWPK-N3HsA7gf3jHhaT1xv84hM130_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." NP3576.RA-IHZfkfCgs_jLJWxFsWPK-N3HsA7gf3jHhaT1xv84hM130_provenance.
• NP3579.RA8QH7Ze78VlgsPX33KwA1bKvwXEOJzMrOBl8n0MvWXK8130_assertion description "[Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3579.RA8QH7Ze78VlgsPX33KwA1bKvwXEOJzMrOBl8n0MvWXK8130_provenance.
• NP3581.RA_maBNMAt7MlLJJe2sX3UwUdMpWBTXmGWfZKglYofyDQ130_assertion description "[Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3581.RA_maBNMAt7MlLJJe2sX3UwUdMpWBTXmGWfZKglYofyDQ130_provenance.
• NP3583.RAwkenRSLnWaaJ6fnREZjA-H0Sn9rGK6tlBMgTL1WLSTI130_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." NP3583.RAwkenRSLnWaaJ6fnREZjA-H0Sn9rGK6tlBMgTL1WLSTI130_provenance.
• NP3584.RA9ytTEwLdtwKNUjESnV5yTAdUjXESCeSe9ZbBLkX3Bl4130_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." NP3584.RA9ytTEwLdtwKNUjESnV5yTAdUjXESCeSe9ZbBLkX3Bl4130_provenance.
• NP3585.RA0txSz20m-vSDDqC7cvvtGwYxjaIj9kZNvZrLDcO79sU130_assertion description "[Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3585.RA0txSz20m-vSDDqC7cvvtGwYxjaIj9kZNvZrLDcO79sU130_provenance.
• NP3587.RA3c-G-CW1LiYrkbndlqQqRL16fPD0vmnRHCUsihqpyzI130_assertion description "[Epidermolysis bullosa simplex in Israel: clinical and genetic features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3587.RA3c-G-CW1LiYrkbndlqQqRL16fPD0vmnRHCUsihqpyzI130_provenance.
• NP3596.RAwy3enGtEqcGi9MghfbMDDJm0UHR5iA9RA9DmaUIenNI130_assertion description "[Keratin 16 and keratin 17 mutations cause pachyonychia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3596.RAwy3enGtEqcGi9MghfbMDDJm0UHR5iA9RA9DmaUIenNI130_provenance.
• NP3598.RA_xW9WmHP1T8K-qC1ujU_-9OZ7Lgskm8IoRC5OrK-scc130_assertion description "[Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3598.RA_xW9WmHP1T8K-qC1ujU_-9OZ7Lgskm8IoRC5OrK-scc130_provenance.
• NP3600.RA6Yr0-S2fjblZ67I0K4yVYH3Kxc-wKz2IhUeyv-ilyRE130_assertion description "[Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3600.RA6Yr0-S2fjblZ67I0K4yVYH3Kxc-wKz2IhUeyv-ilyRE130_provenance.
• NP3608.RA3UlfIBItwWmMVS58vUprhl1kjp6taba2TirwM0J4clo130_assertion description "[Identification of a recurrent mutation in keratin 17 in a Japanese family with pachyonychia congenita type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3608.RA3UlfIBItwWmMVS58vUprhl1kjp6taba2TirwM0J4clo130_provenance.
• NP3611.RAxW5pbcS4xS6TLa0lb-UlVFASiyd6j86j32DEdp3Glxs130_assertion description "[Keratin 17 mutation in pachyonychia congenita type 2 patient with early onset steatocystoma multiplex and Hutchinson-like tooth deformity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3611.RAxW5pbcS4xS6TLa0lb-UlVFASiyd6j86j32DEdp3Glxs130_provenance.
• NP3617.RA0jmprNbyBqgpbWal4lHwdpsUXG_m7RAPNdkU8_5koRM130_assertion description "[Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3617.RA0jmprNbyBqgpbWal4lHwdpsUXG_m7RAPNdkU8_5koRM130_provenance.
• NP3621.RA2-uMTf3GbTup2cIqAT6VNjhTDKwSxs7P4gdWh0i3dlo130_assertion description "[Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3621.RA2-uMTf3GbTup2cIqAT6VNjhTDKwSxs7P4gdWh0i3dlo130_provenance.
• NP3626.RA7nH4S4FeQvCgRqp1i-14PhP23IzM7IE7dEJY_sVoW1A130_assertion description "[Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3626.RA7nH4S4FeQvCgRqp1i-14PhP23IzM7IE7dEJY_sVoW1A130_provenance.
• NP3628.RAw-DX3Tj2NwAFDXI6RsiJCETjbt1HgKx7WJtkxTeubus130_assertion description "[A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3628.RAw-DX3Tj2NwAFDXI6RsiJCETjbt1HgKx7WJtkxTeubus130_provenance.
• NP3632.RA44uC0qoQwnRb2iYD--ka8Bh3X73VSIzka-s93-Aen9k130_assertion description "[In this report, we describe a novel mutation in the keratin 2e gene in a four-generation IBS kindred of German ancestry.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3632.RA44uC0qoQwnRb2iYD--ka8Bh3X73VSIzka-s93-Aen9k130_provenance.
• NP3633.RA86AErX1vkvLtLo55vdzEPbqiHdoyf8FEb6f0ONFRYx8130_assertion description "[A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3633.RA86AErX1vkvLtLo55vdzEPbqiHdoyf8FEb6f0ONFRYx8130_provenance.
• NP3634.RA-Jyur2-SdPglXR27oB9YHCMVqlu2TewXniRFoGEIsDM130_assertion description "[Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3634.RA-Jyur2-SdPglXR27oB9YHCMVqlu2TewXniRFoGEIsDM130_provenance.
• NP3640.RAyMfoVK2OB0odNrcFa4WnFfiz8qrSctX6lMPttXN4u-s130_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." NP3640.RAyMfoVK2OB0odNrcFa4WnFfiz8qrSctX6lMPttXN4u-s130_provenance.
• NP3641.RAzkz5LaABhHZx9av3w8pde208v2qiXU6oMJXvtOY0OuI130_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." NP3641.RAzkz5LaABhHZx9av3w8pde208v2qiXU6oMJXvtOY0OuI130_provenance.
• NP3649.RA994ACVXgr2BkuqcviAcFosqkLEY9n6jwE700GToGB6o130_assertion description "[Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3649.RA994ACVXgr2BkuqcviAcFosqkLEY9n6jwE700GToGB6o130_provenance.
• NP3654.RAw4Pjue41kwwaZSuwN6qBArSVCwisU1b451OorHgGbYU130_assertion description "[Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3654.RAw4Pjue41kwwaZSuwN6qBArSVCwisU1b451OorHgGbYU130_provenance.
• NP3655.RA3JpVfMv8yv3Ic9XuEFq7l9bqirZCpjTWFxkH4UA8hnM130_assertion description "[Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3655.RA3JpVfMv8yv3Ic9XuEFq7l9bqirZCpjTWFxkH4UA8hnM130_provenance.
• NP3661.RA9Cuna_T1jvQp9Yp0fwTWZkCAnjcJ5eZCZvuJxoyO6Ng130_assertion description "[Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3661.RA9Cuna_T1jvQp9Yp0fwTWZkCAnjcJ5eZCZvuJxoyO6Ng130_provenance.
• NP3669.RA2jTjDqa5Hcz0w4jUlKD-QVtHzLvgpuvjXooldYmbEmc130_assertion description "[Is the loose anagen hair syndrome a keratin disorder? A clinical and molecular study.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3669.RA2jTjDqa5Hcz0w4jUlKD-QVtHzLvgpuvjXooldYmbEmc130_provenance.
• NP3671.RA-i1itkFPPSoiR7HV8DqePQsYAO82Q8gDYRYiqQ_4mPI130_assertion description "[A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3671.RA-i1itkFPPSoiR7HV8DqePQsYAO82Q8gDYRYiqQ_4mPI130_provenance.
• NP3682.RA_btncuBlyU1bhhSi4WiM6AHZhlIe5f6_AK0MVqPTzo0130_assertion description "[A novel keratin 9 gene mutation (Asn160His) in a Taiwanese family with epidermolytic palmoplantar keratoderma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3682.RA_btncuBlyU1bhhSi4WiM6AHZhlIe5f6_AK0MVqPTzo0130_provenance.
• NP3686.RAxh0kmQdwL0tCH4cLm02aSk07t1h1IA4HRmiP2Wgrsho130_assertion description "[Diagnosis and confirmation of epidermolytic palmoplantar keratoderma by the identification of mutations in keratin 9 using denaturing high-performance liquid chromatography.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3686.RAxh0kmQdwL0tCH4cLm02aSk07t1h1IA4HRmiP2Wgrsho130_provenance.
• NP3687.RA1j_jFg3bIh9r0mc8avQdyjYSlm8V41RMsCEXBDmE-F4130_assertion description "[Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3687.RA1j_jFg3bIh9r0mc8avQdyjYSlm8V41RMsCEXBDmE-F4130_provenance.
• NP3691.RA2Es-zql8QjqFacB0T9cLFNFipahk1y9j1CHssaqsM3w130_assertion description "[Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3691.RA2Es-zql8QjqFacB0T9cLFNFipahk1y9j1CHssaqsM3w130_provenance.
• NP3692.RAzBGS0pO1H79d6gkXEOsAjXx7-sI9zo_1Wp003vVILAo130_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." NP3692.RAzBGS0pO1H79d6gkXEOsAjXx7-sI9zo_1Wp003vVILAo130_provenance.

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