Nanopublications LDF server

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

• NP4485.RA5yuQ_pt-SW13I_m6URrsjKA9BMbIe5KrEvcAANWx2YQ130_assertion description "[Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4485.RA5yuQ_pt-SW13I_m6URrsjKA9BMbIe5KrEvcAANWx2YQ130_provenance.
• NP4492.RA03Sfy26M0pi3-jT87UZJHJ2gkQooWSFWPCmJfIQMvyY130_assertion description "[Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4492.RA03Sfy26M0pi3-jT87UZJHJ2gkQooWSFWPCmJfIQMvyY130_provenance.
• NP4501.RA-adYfl-46b6UdNJ3yS_t24s0rDLkuOMwHrvUdLWfnUE130_assertion description "[Common arterial trunk associated with a homeodomain mutation of NKX2.6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4501.RA-adYfl-46b6UdNJ3yS_t24s0rDLkuOMwHrvUdLWfnUE130_provenance.
• NP4505.RA6V1DvTVaoxNLastJrasJi5xIZJyqoEgt73gWYViGuRA130_assertion description "[Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4505.RA6V1DvTVaoxNLastJrasJi5xIZJyqoEgt73gWYViGuRA130_provenance.
• NP4507.RAyw7ausjbXR1D0CH7qfBg_nqFKiZ-l9LKG2dgm8CJ50o130_assertion description "[A novel missense mutation in CIAS1 encoding the pyrin-like protein, cryopyrin, causes familial cold autoinflammatory syndrome in a family of Ethiopian origin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4507.RAyw7ausjbXR1D0CH7qfBg_nqFKiZ-l9LKG2dgm8CJ50o130_provenance.
• NP4508.RA3nDMPFBvP904Lsem_XQUV-AdQ5qdoBbnv4nPsaaOlN8130_assertion description "[Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4508.RA3nDMPFBvP904Lsem_XQUV-AdQ5qdoBbnv4nPsaaOlN8130_provenance.
• NP4510.RA0U7xKnIP0pBC7bqYqf9ImDxeGpg2b_5cP2Z6mRlfVQw130_assertion description "[Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4510.RA0U7xKnIP0pBC7bqYqf9ImDxeGpg2b_5cP2Z6mRlfVQw130_provenance.
• NP4518.RA4ieQBMgNJwLn06XQ6bP9x1LWXFVSslXfnTfez6YwBcI130_assertion description "[Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4518.RA4ieQBMgNJwLn06XQ6bP9x1LWXFVSslXfnTfez6YwBcI130_provenance.
• NP4526.RAy2yry6NkmND52KxurbJ_niOIeSvYk8l7k8WFbstQkAg130_assertion description "[Mutational analysis of the NOD2 gene revealed a missense mutation (R334W) previously detected in other Blau syndrome pedigrees.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4526.RAy2yry6NkmND52KxurbJ_niOIeSvYk8l7k8WFbstQkAg130_provenance.
• NP4530.RA-Jn1OSMZdS-fwhZyrQ-XCR9mCWK0DiwzsxJFrH8YcQE130_assertion description "[X-linked situs abnormalities result from mutations in ZIC3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4530.RA-Jn1OSMZdS-fwhZyrQ-XCR9mCWK0DiwzsxJFrH8YcQE130_provenance.
• NP4532.RA0XToNuSJ0-GCill-U1UIvOWT8GziNYOFTZiie8E4RUk130_assertion description "[Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4532.RA0XToNuSJ0-GCill-U1UIvOWT8GziNYOFTZiie8E4RUk130_provenance.
• NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_assertion description "[In a subset of ROR2-negative patients with BDB, clinically defined by the additional occurrence of proximal symphalangism and carpal synostosis, we identified six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4534.RA7cAJpMcMjda9YXRix39A7VqklPCjXlag_rU8KlsP-sk130_provenance.
• NP4537.RA1ImpyRq8Bt8G_J3AaXRNT39RKDx9aHg6YrEvNpezp2M130_assertion description "[Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4537.RA1ImpyRq8Bt8G_J3AaXRNT39RKDx9aHg6YrEvNpezp2M130_provenance.
• NP4547.RA5R362mNATh2R2tvXtqI4t_ZW7JJgoSM3HEEEV0wfn_c130_assertion description "[CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) is a small-artery disease of the brain caused by NOTCH3 mutations that lead to an abnormal accumulation of NOTCH3 within the vasculature.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4547.RA5R362mNATh2R2tvXtqI4t_ZW7JJgoSM3HEEEV0wfn_c130_provenance.
• NP4550.RA_uSLyB3JJYyZK8qed4MAJLfJk0AqYHQ1pCwLZ3l670U130_assertion description "[The influence of genetic and cardiovascular risk factors on the CADASIL phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4550.RA_uSLyB3JJYyZK8qed4MAJLfJk0AqYHQ1pCwLZ3l670U130_provenance.
• NP4551.RAz_FlIN46-ruf0iRSt5TaMSHKxdzrpnoFwQ8VkctDsxM130_assertion description "[Over 130 mutations have been identified in NPC1, with over a third present within an NPC1 specific cysteine-rich domain positioned in a large extracellular loop.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4551.RAz_FlIN46-ruf0iRSt5TaMSHKxdzrpnoFwQ8VkctDsxM130_provenance.
• NP4555.RA1xODyc9GkxB4R_LLWP8XsL2arsnsThkyla_a91Cdkq0130_assertion description "[Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4555.RA1xODyc9GkxB4R_LLWP8XsL2arsnsThkyla_a91Cdkq0130_provenance.
• NP4565.RA1LjsJJkYfD_RzmuVD8YMyOwB8z5lvJ7Aw7pOGhVKy6A130_assertion description "[Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4565.RA1LjsJJkYfD_RzmuVD8YMyOwB8z5lvJ7Aw7pOGhVKy6A130_provenance.
• NP4569.RA1bYBL1AfU7AvaGI-C2HvXlZlkgbUhhcLyeeBqL4wnu0130_assertion description "[Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4569.RA1bYBL1AfU7AvaGI-C2HvXlZlkgbUhhcLyeeBqL4wnu0130_provenance.
• NP4570.RA2qZOL7qGkx3loBVKX4aQkV2dC7zF1jcNip-1rKb-Lds130_assertion description "[Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4570.RA2qZOL7qGkx3loBVKX4aQkV2dC7zF1jcNip-1rKb-Lds130_provenance.
• NP4577.RA8cA7iP02bfSx49x5Q_BQHrEBWKWooPBXQRhkkbLaPWM130_assertion description "[Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4577.RA8cA7iP02bfSx49x5Q_BQHrEBWKWooPBXQRhkkbLaPWM130_provenance.
• NP4581.RA3wVOhBXAC1K9ic6mIBdzWFeJ6Ur6k68_3dyTrEhni5c130_assertion description "[Mutations in the DAX-1 (NROB1) gene result in X-linked congenital adrenal hypoplasia (AHC) and hypogonadotropic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4581.RA3wVOhBXAC1K9ic6mIBdzWFeJ6Ur6k68_3dyTrEhni5c130_provenance.
• NP4583.RA2iXrLPtjSWUyT7z5qZBecob75-7ZpJ4ShZr_oxvFy2w130_assertion description "[Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4583.RA2iXrLPtjSWUyT7z5qZBecob75-7ZpJ4ShZr_oxvFy2w130_provenance.
• NP4612.RA7_tUtSV9PnnL0wVTXPGO1I7spQDRu4pzLZk42Y1od3o130_assertion description "[A restricted spectrum of NRAS mutations causes Noonan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4612.RA7_tUtSV9PnnL0wVTXPGO1I7spQDRu4pzLZk42Y1od3o130_provenance.
• NP4615.RAzsmpDkGaojlj9raxg_GGchWw7LDHk2hPQvart6SE5lo130_assertion description "[Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4615.RAzsmpDkGaojlj9raxg_GGchWw7LDHk2hPQvart6SE5lo130_provenance.
• NP4616.RA6WXxs4eydYWg3g0K7_Jdwopa42IIO3hovYQATa_hOhc130_assertion description "[NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4616.RA6WXxs4eydYWg3g0K7_Jdwopa42IIO3hovYQATa_hOhc130_provenance.
• NP4621.RA7yn3FJMBeB41A3zZjTLzyJUvTzs3m3ldg1BAr0KrGZs130_assertion description "[Evidence for essential catalytic determinants for human erythrocyte pyrimidine 5'-nucleotidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4621.RA7yn3FJMBeB41A3zZjTLzyJUvTzs3m3ldg1BAr0KrGZs130_provenance.
• NP4622.RAw5aeSMmgpdcmPUvHNB1OgSlIXHBbC16xzT039WpvxDk130_assertion description "[Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4622.RAw5aeSMmgpdcmPUvHNB1OgSlIXHBbC16xzT039WpvxDk130_provenance.
• NP4624.RA6vRYfd5mLdxwZjj2znPQ4zRR1UVB34KT0zixW61zZ5I130_assertion description "[Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4624.RA6vRYfd5mLdxwZjj2znPQ4zRR1UVB34KT0zixW61zZ5I130_provenance.
• NP4625.RA2DRCqBJLS0S2rtoicOdE4mVstrWHqUt8FJUWdvR9X7Q130_assertion description "[A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4625.RA2DRCqBJLS0S2rtoicOdE4mVstrWHqUt8FJUWdvR9X7Q130_provenance.
• NP4626.RA9S8VlPbFJZdxmm8qunmFRDJM99Ow7RqAZt39Vp2---I130_assertion description "[Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4626.RA9S8VlPbFJZdxmm8qunmFRDJM99Ow7RqAZt39Vp2---I130_provenance.
• NP4629.RA1av491mJlX5FV4j2XHrzsG0jz5tIjtcre7kHon5jz-A130_assertion description "[A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4629.RA1av491mJlX5FV4j2XHrzsG0jz5tIjtcre7kHon5jz-A130_provenance.
• NP4630.RAzP5USY03ZxLpcysKRyTPgFfVIWtF8cDFkXmFr4qEheQ130_assertion description "[Mutation of NTRK2, which encodes TrkB, seems to result in a unique human syndrome of hyperphagic obesity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4630.RAzP5USY03ZxLpcysKRyTPgFfVIWtF8cDFkXmFr4qEheQ130_provenance.
• NP4632.RAydd_qfx_odIgrTeLGJcQEVKbSoMUbkL1on8caAVVEIA130_assertion description "[The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4632.RAydd_qfx_odIgrTeLGJcQEVKbSoMUbkL1on8caAVVEIA130_provenance.
• NP4638.RA3R4FoRRoaOu6j0U6-aUJirjd8W6PSLcoQApBbH8T6GY130_assertion description "[Point mutation affecting processing of the ornithine aminotransferase precursor protein in gyrate atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4638.RA3R4FoRRoaOu6j0U6-aUJirjd8W6PSLcoQApBbH8T6GY130_provenance.
• NP4642.RA1HnoaE2Z9VP66YzXkw_DqbLyXK8Smfb-zDTMGix2SMA130_assertion description "[The prenatal genetic diagnosis and counseling of oculocutaneous albinism type II (OCA2) by detecting mutations in the OCA2 gene]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4642.RA1HnoaE2Z9VP66YzXkw_DqbLyXK8Smfb-zDTMGix2SMA130_provenance.
• NP4649.RA8MNFbFruZzwE1VOjRaljwolqavHOSmlPM3f8KmiT7fg130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4649.RA8MNFbFruZzwE1VOjRaljwolqavHOSmlPM3f8KmiT7fg130_provenance.
• NP4652.RAzkrGv4ek4u-hFhe2i0bWLM_YwfrlHQ1sEmE-H1NMP0k130_assertion description "[OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4652.RAzkrGv4ek4u-hFhe2i0bWLM_YwfrlHQ1sEmE-H1NMP0k130_provenance.
• NP4654.RA05d9L6cCqtPklKvjN9Azd0VH35WXrTQq4DQGwiNtGCk130_assertion description "[Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4654.RA05d9L6cCqtPklKvjN9Azd0VH35WXrTQq4DQGwiNtGCk130_provenance.
• NP4655.RAzphFFkzlB-UMXoWvTfb4RlZc4r1HQ-n9Y3FwGxoXTAY130_assertion description "[Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4655.RAzphFFkzlB-UMXoWvTfb4RlZc4r1HQ-n9Y3FwGxoXTAY130_provenance.
• NP4656.RA0wzxii2WmZbqikG5hKQ_vkMVx83YFEXQ7bG02vTwQIA130_assertion description "[Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4656.RA0wzxii2WmZbqikG5hKQ_vkMVx83YFEXQ7bG02vTwQIA130_provenance.
• NP4659.RA5OZkJFCqGvozFh-rVk-BC0mwP8m6RkzRWbJAR8dbE8w130_assertion description "[OCRL1 mutations in patients with Dent disease phenotype in Japan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4659.RA5OZkJFCqGvozFh-rVk-BC0mwP8m6RkzRWbJAR8dbE8w130_provenance.
• NP4673.RA7d7FLXm4MiuI1n7jQfylJdVudUhxsZEXCibVD0vLaDY130_assertion description "[Mutation spectrum and splicing variants in the OPA1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4673.RA7d7FLXm4MiuI1n7jQfylJdVudUhxsZEXCibVD0vLaDY130_provenance.
• NP4674.RA2CN56elbmfzUFhdLwuCYGLSx2fOCyJCo-0SYXIiFMAw130_assertion description "[Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4674.RA2CN56elbmfzUFhdLwuCYGLSx2fOCyJCo-0SYXIiFMAw130_provenance.
• NP4675.RA6ojWj8RxjC_a7WrgOpoAj8412QpbLQB6_kXTrQaQpEk130_assertion description "[OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4675.RA6ojWj8RxjC_a7WrgOpoAj8412QpbLQB6_kXTrQaQpEk130_provenance.
• NP4677.RAzovVoPI786G9D9UmlYXDBlUaiYkMZLt8oOGuZoYlcRg130_assertion description "[OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4677.RAzovVoPI786G9D9UmlYXDBlUaiYkMZLt8oOGuZoYlcRg130_provenance.
• NP4680.RAwTtuCywL6zuiGOV71HJRtDW8WJ2YEYFDlx_Jg4KAGGk130_assertion description "[Genetic heterogeneity among blue-cone monochromats.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4680.RAwTtuCywL6zuiGOV71HJRtDW8WJ2YEYFDlx_Jg4KAGGk130_provenance.
• NP4684.RAymLZZ1LAm0Uyhaf8nijihdbFAlmfDshtw-ZBKSOJ_dA130_assertion description "[Gene conversion between red and defective green opsin gene in blue cone monochromacy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4684.RAymLZZ1LAm0Uyhaf8nijihdbFAlmfDshtw-ZBKSOJ_dA130_provenance.
• NP4690.RA6CKAB5H6QHUDaOFOQxd15mAfOd9Ln8a5Guo4XS8XN3Q130_assertion description "[Different optineurin mutation pattern in primary open-angle glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4690.RA6CKAB5H6QHUDaOFOQxd15mAfOd9Ln8a5Guo4XS8XN3Q130_provenance.
• NP4691.RA4pl6tM7rjL4Ci7BOwaZjPlHVS8Wh101JVvC3qPwl6lU130_assertion description "[Optineurin was recently associated with a variant of POAG that is characterized by intraocular pressure within normal limits: normal-tension glaucoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4691.RA4pl6tM7rjL4Ci7BOwaZjPlHVS8Wh101JVvC3qPwl6lU130_provenance.
• NP4696.RA1SjTQwGfVTd__nV_nHWQGmozByZfYWF5mfL-ZM-8xU8130_assertion description "[Using marker-assisted mapping in multiple families from a founder population and traditional coding exon sequencing of positional candidate genes, we identified three different mutations in the gene encoding ORC4, a component of the eukaryotic origin recognition complex, in five individuals with Meier-Gorlin syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4696.RA1SjTQwGfVTd__nV_nHWQGmozByZfYWF5mfL-ZM-8xU8130_provenance.
• NP4697.RAxCYBustDOYymQcrcP0VPRgkD8UebWNz-BZOsnH1-j6I130_assertion description "[Mutations in the pre-replication complex cause Meier-Gorlin syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4697.RAxCYBustDOYymQcrcP0VPRgkD8UebWNz-BZOsnH1-j6I130_provenance.
• NP4698.RA2fpyERlUZXYRl0_5DVaw_cEdzH4JeVk-B653afKHTxw130_assertion description "[Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4698.RA2fpyERlUZXYRl0_5DVaw_cEdzH4JeVk-B653afKHTxw130_provenance.
• NP4700.RA_Le-YTj1BL0JMojbmLsxkhp-GJgAXvv96W5YQVe3NDc130_assertion description "[This approach based on reverse transcription and nested PCR to obtain a double strand PBL OTC cDNA allowed the identification of genetic lesions in five Italian families affected by OTC deficiency (OTCD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4700.RA_Le-YTj1BL0JMojbmLsxkhp-GJgAXvv96W5YQVe3NDc130_provenance.
• NP4702.RA_0XmQ5-_Rs_3gRkWjvfI2h4V2TWYuRzVVAZjKZFwiG8130_assertion description "[To investigate molecular lesions resulting in OTC deficiency, the OTC genes of unrelated symptomatic or asymptomatic female heterozygotes were amplified exon by exon and analysed by direct sequencing of double-stranded DNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4702.RA_0XmQ5-_Rs_3gRkWjvfI2h4V2TWYuRzVVAZjKZFwiG8130_provenance.
• NP4705.RA1eA7mgYc_ld9rizzI8CQFslSQj-uNGQ0xHTaU4Wrp5I130_assertion description "[Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4705.RA1eA7mgYc_ld9rizzI8CQFslSQj-uNGQ0xHTaU4Wrp5I130_provenance.
• NP4707.RA_2skMQ6YFDMb_SvhyhbG3YVV2HfXGHK3E7nXtw30QrE130_assertion description "[Since the cloning of the cDNA for X-linked ornithine transcarbamylase (OTC) in 1984, diagnostic accuracy of OTC deficiency for prenatal and carrier detection has been greatly improved by the use of linkage analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4707.RA_2skMQ6YFDMb_SvhyhbG3YVV2HfXGHK3E7nXtw30QrE130_provenance.
• NP4708.RA9NBGNL2Ku3CSlMCewqkXlmaJGCnVqttOV8XwfDtVbQY130_assertion description "[Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4708.RA9NBGNL2Ku3CSlMCewqkXlmaJGCnVqttOV8XwfDtVbQY130_provenance.
• NP4712.RA4ZHPJ1wY4NR6tikQM66b0rk7nRzZRnwIUWswqbAZgjA130_assertion description "[A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4712.RA4ZHPJ1wY4NR6tikQM66b0rk7nRzZRnwIUWswqbAZgjA130_provenance.
• NP4714.RA-DYrvUQ5no74IyDAhbcaLqVTB5S9oUmjFBjDT-yfyMo130_assertion description "[Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4714.RA-DYrvUQ5no74IyDAhbcaLqVTB5S9oUmjFBjDT-yfyMo130_provenance.
• NP4715.RA_JrWaXfNDDY0ijTHnmLgEBC8k1MSfc9wVXwY_rhvwF8130_assertion description "[Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4715.RA_JrWaXfNDDY0ijTHnmLgEBC8k1MSfc9wVXwY_rhvwF8130_provenance.
• NP4716.RA73Xwsch63GJrsDrT0VCmVo5uroDlBhRrkH3fKDEcpoo130_assertion description "[Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4716.RA73Xwsch63GJrsDrT0VCmVo5uroDlBhRrkH3fKDEcpoo130_provenance.
• NP4721.RAw184nODbjDrg4lhzxRnVjtI-ngKul5QoFD4NLTeHUdI130_assertion description "[Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4721.RAw184nODbjDrg4lhzxRnVjtI-ngKul5QoFD4NLTeHUdI130_provenance.
• NP4722.RAwga1zNvoMvf34qMUbzJGxA5MemzPqS_eLqMarWWEBaY130_assertion description "[A 1385A-->C mutation was found in the LIS1 gene in one patient with LIS more severe than expected for individuals with missense mutations in LIS1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4722.RAwga1zNvoMvf34qMUbzJGxA5MemzPqS_eLqMarWWEBaY130_provenance.
• NP4724.RA1qgThuOmw8RgvorJ1UG49CTWpJdi-xDOSZnsUGaoIik130_assertion description "[Mutational spectrum of the phenylalanine hydroxylase (PAH) deficiency was investigated in 107 families (90% of the Slovene PKU population).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4724.RA1qgThuOmw8RgvorJ1UG49CTWpJdi-xDOSZnsUGaoIik130_provenance.
• NP4730.RAwYY0FsmoOr3UbLfJ6zFkfYWEd4YgnmI1yJbsQ37kPDY130_assertion description "[The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4730.RAwYY0FsmoOr3UbLfJ6zFkfYWEd4YgnmI1yJbsQ37kPDY130_provenance.
• NP4734.RA7aKLyja4OyZNDAkl4qmbz9j0rC79lyslnrR-dTxlsXQ130_assertion description "[X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4734.RA7aKLyja4OyZNDAkl4qmbz9j0rC79lyslnrR-dTxlsXQ130_provenance.
• NP4741.RAzz6ZL78XwnS2g-BJwcMACPAyAxIXOH7owxkJ1BJu7wg130_assertion description "[Novel parkin mutations detected in patients with early-onset Parkinson's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4741.RAzz6ZL78XwnS2g-BJwcMACPAyAxIXOH7owxkJ1BJu7wg130_provenance.
• NP4746.RA8Yg42RplUGBeZo-FAxWKUtFIsVl8nwBXOlsdsynyO40130_assertion description "[Complex relationship between Parkin mutations and Parkinson disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4746.RA8Yg42RplUGBeZo-FAxWKUtFIsVl8nwBXOlsdsynyO40130_provenance.
• NP4750.RA8HuBBOCbmBjo0o4enLRx4OvDDk_8NiHuZHPwH1I1T1Q130_assertion description "[Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4750.RA8HuBBOCbmBjo0o4enLRx4OvDDk_8NiHuZHPwH1I1T1Q130_provenance.
• NP4752.RA7EPdH4E1-PAFpFR_6cg6R79XaZPmHI5JGMkJ_5-Wtsg130_assertion description "[PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4752.RA7EPdH4E1-PAFpFR_6cg6R79XaZPmHI5JGMkJ_5-Wtsg130_provenance.
• NP4754.RA2kUfmqangAJwNr7FEHCoqpDexCfDPjOUli44B5u4W_o130_assertion description "[Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4754.RA2kUfmqangAJwNr7FEHCoqpDexCfDPjOUli44B5u4W_o130_provenance.
• NP4757.RA30s7hyVcWMR5MXcXOGrfx-ezeIQoeT7L2JR58_PgUVg130_assertion description "[The role of pathogenic DJ-1 mutations in Parkinson's disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4757.RA30s7hyVcWMR5MXcXOGrfx-ezeIQoeT7L2JR58_PgUVg130_provenance.
• NP4759.RA5VDPnXXYCDVqdV9QcD5WS0aWQGQBm1XtloV68DG0D-Y130_assertion description "[Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4759.RA5VDPnXXYCDVqdV9QcD5WS0aWQGQBm1XtloV68DG0D-Y130_provenance.
• NP4760.RA0tDoA0GnMaCujG7OB327S9sstVAuKQsE6biuNT0xtVc130_assertion description "[Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4760.RA0tDoA0GnMaCujG7OB327S9sstVAuKQsE6biuNT0xtVc130_provenance.
• NP4762.RA30cHeJs-NSWGLT8_Gaeughv9WpJbVAuTM_o7R6sW1mw130_assertion description "[Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4762.RA30cHeJs-NSWGLT8_Gaeughv9WpJbVAuTM_o7R6sW1mw130_provenance.
• NP4766.RAz4jLfPtsmM9Kdnk_RVCKaPRo5HJxzQkcGdhAVNuASKo130_assertion description "[Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4766.RAz4jLfPtsmM9Kdnk_RVCKaPRo5HJxzQkcGdhAVNuASKo130_provenance.
• NP4771.RA-L_3XDYJYWm6e2UurdJw2CjfooRzu5vxbRxYNzfSfCE130_assertion description "[The mutational spectrum in Waardenburg syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4771.RA-L_3XDYJYWm6e2UurdJw2CjfooRzu5vxbRxYNzfSfCE130_provenance.
• NP4777.RA4uu1QBuEEcJiOCynWhSYcEJo83rjPMWK8_rl6myYH3k130_assertion description "[Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4777.RA4uu1QBuEEcJiOCynWhSYcEJo83rjPMWK8_rl6myYH3k130_provenance.
• NP4779.RAy-6L41aUWwv6p5_Kru7FVMh5lPIhG_9O3eUQr3x2uPw130_assertion description "[Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4779.RAy-6L41aUWwv6p5_Kru7FVMh5lPIhG_9O3eUQr3x2uPw130_provenance.
• NP4784.RA472XFdBARQHSFFk7aPqXztHIyPTU3TdBuKNVvvghYOM130_assertion description "[Missense mutations in the DNA-binding region and termination codon in PAX6.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4784.RA472XFdBARQHSFFk7aPqXztHIyPTU3TdBuKNVvvghYOM130_provenance.
• NP4787.RA85bSCPmMIbQxbVgSBYpwijGWZhqKzkP-DWe55NdjKCQ130_assertion description "[Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4787.RA85bSCPmMIbQxbVgSBYpwijGWZhqKzkP-DWe55NdjKCQ130_provenance.
• NP4793.RA_XU-Y37PkddUTxrbqDYPlZexTC46Et-Vle6fVLJi7dg130_assertion description "[PAX6 mutations have been detected in various ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataracts, and foveal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4793.RA_XU-Y37PkddUTxrbqDYPlZexTC46Et-Vle6fVLJi7dg130_provenance.
• NP4794.RA3-BilBjSqcJB265VbnVFgIP7QVmgIkzpAEmoRGKcBkQ130_assertion description "[PAX6 missense mutation in isolated foveal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4794.RA3-BilBjSqcJB265VbnVFgIP7QVmgIkzpAEmoRGKcBkQ130_provenance.
• NP4795.RAyCUz18h5viJqPPI4ePJcDNSy41KkXvZqBbUhd_dsYH0130_assertion description "[Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4795.RAyCUz18h5viJqPPI4ePJcDNSy41KkXvZqBbUhd_dsYH0130_provenance.
• NP4796.RA1YamVl7YjuELWYm69P4MioxNfefFmsdowfmwX7ITgqE130_assertion description "[Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4796.RA1YamVl7YjuELWYm69P4MioxNfefFmsdowfmwX7ITgqE130_provenance.
• NP4799.RA8QkVWKO9MfV4PS-Sw05PA4WmiZjsOtIa6BcJtSlnSjk130_assertion description "[A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4799.RA8QkVWKO9MfV4PS-Sw05PA4WmiZjsOtIa6BcJtSlnSjk130_provenance.
• NP4800.RAwCU8a797QC_PKW4syLLeutyUg417O5CJgzu5eJq3X7w130_assertion description "[Autosomal dominant transmission of congenital thyroid hypoplasia due to loss-of-function mutation of PAX8.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4800.RAwCU8a797QC_PKW4syLLeutyUg417O5CJgzu5eJq3X7w130_provenance.
• NP4801.RA31icw4nEB2laSgIqrW8eStv302TY3eO7wUC3FiBttos130_assertion description "[Novel mutation in the paired box sequence of PAX9 gene in a sporadic form of oligodontia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4801.RA31icw4nEB2laSgIqrW8eStv302TY3eO7wUC3FiBttos130_provenance.
• NP4802.RAymE3o7iVjnagsGYP80HO4L1IIXnPerbbuT_CR8tkj08130_assertion description "[Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4802.RAymE3o7iVjnagsGYP80HO4L1IIXnPerbbuT_CR8tkj08130_provenance.
• NP4804.RAw1VUeUiy2Xa_RUVISHJxwbpsA45Hp8GEby7Fi_iSW4o130_assertion description "[Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4804.RAw1VUeUiy2Xa_RUVISHJxwbpsA45Hp8GEby7Fi_iSW4o130_provenance.
• NP4808.RA_pKCaYxD_bW4IlvVoylm95vqHHXZaL-d5eq8hcA-H3I130_assertion description "[In conclusion, a limited number of mutations are predominant in both PCCA and PCCB genes among Japanese patients with propionic acidemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4808.RA_pKCaYxD_bW4IlvVoylm95vqHHXZaL-d5eq8hcA-H3I130_provenance.
• NP4809.RAz6-SndLlhy7hRp5gCG5H0sQxWA-33FNSnhTzKXNYlnM130_assertion description "[Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4809.RAz6-SndLlhy7hRp5gCG5H0sQxWA-33FNSnhTzKXNYlnM130_provenance.
• NP4816.RA-vJEmZYV82UrBwOMgwNPlFV7cvBJLRYVNtl_7TWSO0c130_assertion description "[Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4816.RA-vJEmZYV82UrBwOMgwNPlFV7cvBJLRYVNtl_7TWSO0c130_provenance.
• NP4818.RAzoLA8fYkZt3Zlut4a7KlheXNGHaH910-emTrbvkHFvc130_assertion description "[Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4818.RAzoLA8fYkZt3Zlut4a7KlheXNGHaH910-emTrbvkHFvc130_provenance.
• NP4821.RA5GnMoMEEQzUdxRoOE62BAU5lF52UoCPenzUNfxol0YE130_assertion description "[PCDH19 mutation in Japanese females with epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4821.RA5GnMoMEEQzUdxRoOE62BAU5lF52UoCPenzUNfxol0YE130_provenance.
• NP4827.RAwzvM6lnxwK9pqykocUrzaoJR3kI9-MlvSbTx_1QOSH0130_assertion description "[Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4827.RAwzvM6lnxwK9pqykocUrzaoJR3kI9-MlvSbTx_1QOSH0130_provenance.
• NP4829.RAzEfvidq0goYUKK5PMmmqThBWeF-holoM2Rvd7R4JKgU130_assertion description "[Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4829.RAzEfvidq0goYUKK5PMmmqThBWeF-holoM2Rvd7R4JKgU130_provenance.
• NP4831.RA0eUcwmkCeLfw6howRNTHrPxMBHyPrgIb4tLTeqcsKsw130_assertion description "[As null mutations in PDEB cause some cases of RP and since both alpha and beta subunits are required for full phosphodiesterase activity, we examined the gene encoding the alpha subunit of cGMP phosphodiesterase (PDEA) in 340 unrelated patients with RP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4831.RA0eUcwmkCeLfw6howRNTHrPxMBHyPrgIb4tLTeqcsKsw130_provenance.
• NP4839.RA-ZoCqlvHUlTiakO-Eas_nJjtvG6mads6Qgk2jpwPg70130_assertion description "[Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4839.RA-ZoCqlvHUlTiakO-Eas_nJjtvG6mads6Qgk2jpwPg70130_provenance.

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