Nanopublications LDF server

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

• NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_assertion description "[We analyzed the entire protein-coding sequence of this gene by reverse-transcription PCR, SSCP, and DNA sequencing in five patients with different clinical expression of X-ALD and in their female relatives; these clinical expressions were cerebral childhood ALD, adrenomyeloneuropathy (AMN), and `Addison disease only` (ADO) phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.
• NP105.RA_IA0h1FevMLyRlBQs6ZDWBv7TsD5JjaVlZ3RrccHwq4130_assertion description "[To determine whether mutations occur in the putative NBF of ALD protein, we analyzed by denaturing gradient gel electrophoresis (DGGE) exon 6 and 8 that encode most part of this domain in 50 ALD patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP105.RA_IA0h1FevMLyRlBQs6ZDWBv7TsD5JjaVlZ3RrccHwq4130_provenance.
• NP106.RA-Ppyyvo2P3QPHm_93SE3ySzfuk0cEUNtl4P107n5QOA130_assertion description "[A candidate gene for X-linked adrenoleukodystrophy (ALD) has been identified via positional cloning strategies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP106.RA-Ppyyvo2P3QPHm_93SE3ySzfuk0cEUNtl4P107n5QOA130_provenance.
• NP110.RA0eYvSRMDd3dZqQr-EWZYiigbHQbnq-lfWH3PzKAjN5g130_assertion description "[Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP110.RA0eYvSRMDd3dZqQr-EWZYiigbHQbnq-lfWH3PzKAjN5g130_provenance.
• NP111.RAxWC_ncZwHVVKm0dYynbO-u7yn3I_xwuHmtQBmDTWq50130_assertion description "[CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP111.RAxWC_ncZwHVVKm0dYynbO-u7yn3I_xwuHmtQBmDTWq50130_provenance.
• NP117.RA0pVN2ZQl59C0sm87f6dx55gHQ6UNy0Yv3E3deYfxVBg130_assertion description "[Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP117.RA0pVN2ZQl59C0sm87f6dx55gHQ6UNy0Yv3E3deYfxVBg130_provenance.
• NP119.RAz9M2tUpkwvDWeJ1fYGhApUObw2roQ7LLTD1xGvqGKuI130_assertion description "[Most patients with MCAD deficiency are homozygous for a single disease-causing mutation (G985), causing a change from lysine to glutamate at position 304 (K304E) in the mature MCAD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP119.RAz9M2tUpkwvDWeJ1fYGhApUObw2roQ7LLTD1xGvqGKuI130_provenance.
• NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_assertion description "[As in other metabolic disorders, the distinction between `normal` and `disease` in MCAD deficiency is blurring into a spectrum of enzyme deficiency states caused by different mutations in the ACADM gene potentially influenced by factors affecting intracellular protein processing.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP122.RA1-EwlQR8P4oFCSSpGnn3NF4n8MFBM_EHrIabkuzBNjs130_provenance.
• NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_assertion description "[Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP125.RA7950oH7OeCC7eMfCuA8wKFm3YR5_HcSUaLG7tXabG7Y130_provenance.
• NP127.RAxwCd5eHuKo68gr0Gcu1WWXmHUPdrqgxZoNvFDEVKFsg130_assertion description "[We have now characterized three disease-causing mutations (confirmed by lack of enzyme activity after expression in COS-7 cells) and a new susceptibility variant in the SCAD gene of two patients with SCAD deficiency, and investigated their frequency in patients with elevated EMA excretion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP127.RAxwCd5eHuKo68gr0Gcu1WWXmHUPdrqgxZoNvFDEVKFsg130_provenance.
• NP130.RAzMrqr_OcURZUU6wsYa1poheiHrb1Tlh8I5Ch4BM5YIo130_assertion description "[Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP130.RAzMrqr_OcURZUU6wsYa1poheiHrb1Tlh8I5Ch4BM5YIo130_provenance.
• NP131.RAwHF3jL3ziJrI4IdwInmXJbWILg8DUXNSqzPYYkYCbBk130_assertion description "[Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP131.RAwHF3jL3ziJrI4IdwInmXJbWILg8DUXNSqzPYYkYCbBk130_provenance.
• NP139.RA827pPjRN0FQ0bQcGvNtJnTnNeVdG8zy2jjWs05I_igA130_assertion description "[Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP139.RA827pPjRN0FQ0bQcGvNtJnTnNeVdG8zy2jjWs05I_igA130_provenance.
• NP144.RA-S5uBDXbVo8-clG1FtzaBnBPydACY4hS9PApG2jDSao130_assertion description "[FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP144.RA-S5uBDXbVo8-clG1FtzaBnBPydACY4hS9PApG2jDSao130_provenance.
• NP151.RAyj2jslVZFQZ0T6_Z8o55yB0UAemacJIT-Lhhruk-W5o130_assertion description "[Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP151.RAyj2jslVZFQZ0T6_Z8o55yB0UAemacJIT-Lhhruk-W5o130_provenance.
• NP153.RA_3RLnFVhO4ZEh-V-QOrQa1yyXtZFxJbuyfco5j8Z-yk130_assertion description "[Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP153.RA_3RLnFVhO4ZEh-V-QOrQa1yyXtZFxJbuyfco5j8Z-yk130_provenance.
• NP157.RAyX-8L_h4AF1Xvyy92CYwQHNqUiVBl1U9fgluwkBRLcA130_assertion description "[Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP157.RAyX-8L_h4AF1Xvyy92CYwQHNqUiVBl1U9fgluwkBRLcA130_provenance.
• NP160.RA7IkHal4uP0agHoD40MSsmP_nFGL0DZj8D3yshF8GW2U130_assertion description "[Analysis of ACTA2 in European Moyamoya disease patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP160.RA7IkHal4uP0agHoD40MSsmP_nFGL0DZj8D3yshF8GW2U130_provenance.
• NP161.RA5PawERtaljYBu72oBCBfGa8tFLeYu5mCyO00DhD2G20130_assertion description "[A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP161.RA5PawERtaljYBu72oBCBfGa8tFLeYu5mCyO00DhD2G20130_provenance.
• NP162.RAynzC61IWUySj_2UEwi8TKAlULAv7iHqZPoV3YgdEnT4130_assertion description "[De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP162.RAynzC61IWUySj_2UEwi8TKAlULAv7iHqZPoV3YgdEnT4130_provenance.
• NP165.RAwHWumjLBhiZYXf_ZkOYkT2iA2jxFvBlZ8RqdvQ8g4I0130_assertion description "[Shared genetic causes of cardiac hypertrophy in children and adults.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP165.RAwHWumjLBhiZYXf_ZkOYkT2iA2jxFvBlZ8RqdvQ8g4I0130_provenance.
• NP166.RA7y05XW0gCzl2QyIcNNMdilVOl6g_dpCqGZj2qRZsoAE130_assertion description "[Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP166.RA7y05XW0gCzl2QyIcNNMdilVOl6g_dpCqGZj2qRZsoAE130_provenance.
• NP167.RA3kC5KbydXbrlEmlmcEwN6xZQTIsxg3wmSZS1Sgrr4aw130_assertion description "[Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP167.RA3kC5KbydXbrlEmlmcEwN6xZQTIsxg3wmSZS1Sgrr4aw130_provenance.
• NP169.RA4raXNULahaN5QJTxsHVQ7_XI0qXtLYxCcHq5R45l768130_assertion description "[Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP169.RA4raXNULahaN5QJTxsHVQ7_XI0qXtLYxCcHq5R45l768130_provenance.
• NP179.RA2HmUOgg5PuikflCjDnM_FQybD3RliDFyeS2AKfZRvZ4130_assertion description "[Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP179.RA2HmUOgg5PuikflCjDnM_FQybD3RliDFyeS2AKfZRvZ4130_provenance.
• NP185.RA3y-YkaxscQm5l_ohDZ0TZtF7vWDdYVjEgztDvQdJL6E130_assertion description "[The high rate of detection of mutations by genomic sequencing of ALK-1 suggests that this will be a useful diagnostic test for HHT2, particularly where preliminary linkage to chromosome 12q13 can be established.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP185.RA3y-YkaxscQm5l_ohDZ0TZtF7vWDdYVjEgztDvQdJL6E130_provenance.
• NP197.RA2kyBNv-33hgKsyiZ0DLF4UpgeOr8albCxhannFdh0Zw130_assertion description "[We confirm that deficiency of ADAMTS13 is a molecular mechanism responsible for familial TTP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP197.RA2kyBNv-33hgKsyiZ0DLF4UpgeOr8albCxhannFdh0Zw130_provenance.
• NP200.RAwXTUwP1g2Adn4XbpBIwwAGZ1OWlkAODW_y0zB5wuUsU130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP200.RAwXTUwP1g2Adn4XbpBIwwAGZ1OWlkAODW_y0zB5wuUsU130_provenance.
• NP210.RA9xW0H23qbIzIFwEczYfaAf7txX-67L-xXMGOeyqfZNM130_assertion description "[Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP210.RA9xW0H23qbIzIFwEczYfaAf7txX-67L-xXMGOeyqfZNM130_provenance.
• NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_assertion description "[Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.
• NP212.RA7hzok1Wb2r3Jtux4A2xyCXn1R33pLwHGDiPhryVauwk130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP212.RA7hzok1Wb2r3Jtux4A2xyCXn1R33pLwHGDiPhryVauwk130_provenance.
• NP215.RAyPyNsUtiue_66knlbM56MXTu1RzBLmLkKVKrT6Xj578130_assertion description "[A new arginine substitution mutation of DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP215.RAyPyNsUtiue_66knlbM56MXTu1RzBLmLkKVKrT6Xj578130_provenance.
• NP217.RA4vKUx8oVHdUJ4eTcDpodRehc7ErLpUIjMYdNGmR8UjE130_assertion description "[ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP217.RA4vKUx8oVHdUJ4eTcDpodRehc7ErLpUIjMYdNGmR8UjE130_provenance.
• NP219.RA6e0AcK6lJcJcNLywtVYMDQde6VWboV7gbivlWBBeMXw130_assertion description "[Association of adiponectin mutation with type 2 diabetes: a candidate gene for the insulin resistance syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP219.RA6e0AcK6lJcJcNLywtVYMDQde6VWboV7gbivlWBBeMXw130_provenance.
• NP230.RAxSbNMaYt3TB0sJGnfX1oBhoOtU9y3rRmDCqj0mb57lY130_assertion description "[Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP230.RAxSbNMaYt3TB0sJGnfX1oBhoOtU9y3rRmDCqj0mb57lY130_provenance.
• NP234.RA9ftd8w4V4J5HnncMLJnbKLdszOP8QsMm2bIEHlVKP9A130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP234.RA9ftd8w4V4J5HnncMLJnbKLdszOP8QsMm2bIEHlVKP9A130_provenance.
• NP235.RA98LvfbCOdwhxv2rvrvg6ICqezB4QnZNG96lnHXTZsfE130_assertion description "[Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by deficient activity of aspartylglucosaminidase (AGA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP235.RA98LvfbCOdwhxv2rvrvg6ICqezB4QnZNG96lnHXTZsfE130_provenance.
• NP237.RA3xuX2_a72-iTgdVDcCnIyzXlAKfuqlgxCNK_rui89is130_assertion description "[Aspartylglucosaminuria (AGU) is a lysosomal storage disease caused by deficiency of aspartylglucosaminidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP237.RA3xuX2_a72-iTgdVDcCnIyzXlAKfuqlgxCNK_rui89is130_provenance.
• NP244.RA6VbhbSHOAYFuVuhcPtHFL6am8zxEoeZXzP_hNupnvd0130_assertion description "[It is commonly caused by defects in the peroxisome transporter, PEX7 (RCDP1), and less frequently due to defects in the peroxisomal enzymes required to initiate plasmalogen synthesis, GNPAT (RCDP2) and AGPS (RCDP3).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP244.RA6VbhbSHOAYFuVuhcPtHFL6am8zxEoeZXzP_hNupnvd0130_provenance.
• NP269.RA_PhN6UU4vFtS3kIFt73cmCF2ApdNl5bJUbomhx2AQQY130_assertion description "[The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP269.RA_PhN6UU4vFtS3kIFt73cmCF2ApdNl5bJUbomhx2AQQY130_provenance.
• NP276.RA2xfK4WhaY9xdC6jhUo2xhqz6WgWWDnBjPRJnkAwuJ9U130_assertion description "[Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy (APECED) also known as autoimmune polyglandular syndrome type I, is a rare autosomal recessive disorder that results in several autoimmune diseases due to mutations in the AIRE (autoimmune regulator) gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP276.RA2xfK4WhaY9xdC6jhUo2xhqz6WgWWDnBjPRJnkAwuJ9U130_provenance.
• NP277.RA4STUzGK2wUV9lsC78T20HpI40AljWW6SzgdfHfdutmk130_assertion description "[Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP277.RA4STUzGK2wUV9lsC78T20HpI40AljWW6SzgdfHfdutmk130_provenance.
• NP288.RA60Yr0i9ttH9CK47YEu3nWQhWfSvclUxx0hj3swDNonM130_assertion description "[A mosaic activating mutation in AKT1 associated with the Proteus syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP288.RA60Yr0i9ttH9CK47YEu3nWQhWfSvclUxx0hj3swDNonM130_provenance.
• NP296.RA3cd5d9kkQG1nXRb-VmB1NoHQmZDzjK6-TbunHGFfjyw130_assertion description "[Enzymatic defect in `X-linked` sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP296.RA3cd5d9kkQG1nXRb-VmB1NoHQmZDzjK6-TbunHGFfjyw130_provenance.
• NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_assertion description "[A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP299.RA-oRBPYFT4wNTZfp33_0zmYpr0-UVps8ZMcBiHZnk654130_provenance.
• NP306.RA0MeQNk6q_rgcynu9DDsK_YZTXLlzZQDbLuV3Q5_IxDs130_assertion description "[A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP306.RA0MeQNk6q_rgcynu9DDsK_YZTXLlzZQDbLuV3Q5_IxDs130_provenance.
• NP321.RA-a419mwizzjhzDo7MdWhNP9AWgDMzaLqs1jjgFO-WBo130_assertion description "[The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP321.RA-a419mwizzjhzDo7MdWhNP9AWgDMzaLqs1jjgFO-WBo130_provenance.
• NP326.RAzZ-iyalcy-ZazvegMrBpYuLSxL1EXoWWHvBSx5J7kd4130_assertion description "[Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP326.RAzZ-iyalcy-ZazvegMrBpYuLSxL1EXoWWHvBSx5J7kd4130_provenance.
• NP330.RA59v_EFzU152w0j0nxLEkrjNIAWaY9g2GcRVKZ-9QbPY130_assertion description "[Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP330.RA59v_EFzU152w0j0nxLEkrjNIAWaY9g2GcRVKZ-9QbPY130_provenance.
• NP333.RA3Mu3hZpJ8BvvK6MJezD6OFg__2lbPPwnXrpWPlZPZWY130_assertion description "[Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP333.RA3Mu3hZpJ8BvvK6MJezD6OFg__2lbPPwnXrpWPlZPZWY130_provenance.
• NP340.RA8iADlGq_uPv-0_oXCnto8RSh84HGg8pG8Mi8IPRr_vg130_assertion description "[Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP340.RA8iADlGq_uPv-0_oXCnto8RSh84HGg8pG8Mi8IPRr_vg130_provenance.
• NP345.RA2IzNJJW-HxgOWBmqWYC4oS2TpPXxzmb1Ncc7ZjxqFnc130_assertion description "[Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP345.RA2IzNJJW-HxgOWBmqWYC4oS2TpPXxzmb1Ncc7ZjxqFnc130_provenance.
• NP354.RA1-YICRXyyZjYNXoxzwQ6Xt3hKMbl1HpyO8Qr9yuI1lw130_assertion description "[Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP354.RA1-YICRXyyZjYNXoxzwQ6Xt3hKMbl1HpyO8Qr9yuI1lw130_provenance.
• NP361.RA1SLyJwOv2EAMWLcmm7Ad6cT3n5yURBUvU9YH7nxUVE4130_assertion description "[A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP361.RA1SLyJwOv2EAMWLcmm7Ad6cT3n5yURBUvU9YH7nxUVE4130_provenance.
• NP364.RAz5qphkU5JZRDPuKVdHWI2E0b-ywsBkuAf5IPEaHFzFk130_assertion description "[Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP364.RAz5qphkU5JZRDPuKVdHWI2E0b-ywsBkuAf5IPEaHFzFk130_provenance.
• NP370.RA3jglxrHBCb6CBgJA5JM-IKZHpM2DMNSK5ToXV9MLX-0130_assertion description "[Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP370.RA3jglxrHBCb6CBgJA5JM-IKZHpM2DMNSK5ToXV9MLX-0130_provenance.
• NP372.RA17gYeWmyFQTi2NwTXkENZBIekRe_7uP-dQeOlyQHHvc130_assertion description "[Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP372.RA17gYeWmyFQTi2NwTXkENZBIekRe_7uP-dQeOlyQHHvc130_provenance.
• NP376.RA6WknTe-hsTKZ4ipGBzy60UnFnyckYpOyOzzIqmsrhjw130_assertion description "[A 27 base-pair deletion of the anti-mllerian type II receptor gene is the most common cause of the persistent mllerian duct syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP376.RA6WknTe-hsTKZ4ipGBzy60UnFnyckYpOyOzzIqmsrhjw130_provenance.
• NP377.RA-uaMUP5chvRyOergxFpcGscPCaWZakgGEY14aSle2q8130_assertion description "[Autosomal recessive segregation of a truncating mutation of anti-Mllerian type II receptor in a family affected by the persistent Mllerian duct syndrome contrasts with its dominant negative activity in vitro.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP377.RA-uaMUP5chvRyOergxFpcGscPCaWZakgGEY14aSle2q8130_provenance.
• NP380.RAwc2xVPjD6Qnch9BsRWyKRJTG5WNVuWQfCXbHcNNbmiY130_assertion description "[A point mutation responsible for human erythrocyte AMP deaminase deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP380.RAwc2xVPjD6Qnch9BsRWyKRJTG5WNVuWQfCXbHcNNbmiY130_provenance.
• NP382.RA5NbobHPuORbNOFxgSu53IOlx3PrUhuTWxDvMmigwr8k130_assertion description "[Gene mutations responsible for human erythrocyte AMP deaminase deficiency in Poles.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP382.RA5NbobHPuORbNOFxgSu53IOlx3PrUhuTWxDvMmigwr8k130_provenance.
• NP389.RA0J4pwYg_-vWvidgehTDrhKRNzEIoV5tiAvM1B-BChH0130_assertion description "[Our results provide further evidence of a tight link between angiogenesis and ALS pathogenesis and suggest that mutations in ANG gene are associated with an increased risk to develop ALS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP389.RA0J4pwYg_-vWvidgehTDrhKRNzEIoV5tiAvM1B-BChH0130_provenance.
• NP390.RA6BdIqHO_xMzE3RnF_Qpdc3nU2FuctjfiAFxs-8w0NRM130_assertion description "[Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP390.RA6BdIqHO_xMzE3RnF_Qpdc3nU2FuctjfiAFxs-8w0NRM130_provenance.
• NP391.RAyryl9FVVQxuHjD6rKzs4mHxANhDZ95-qTvlg_AEZd6g130_assertion description "[Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP391.RAyryl9FVVQxuHjD6rKzs4mHxANhDZ95-qTvlg_AEZd6g130_provenance.
• NP392.RAywMImnCrPHecdxRhcHELUCR6cbeOMMmjyxR6SVZJmHo130_assertion description "[Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP392.RAywMImnCrPHecdxRhcHELUCR6cbeOMMmjyxR6SVZJmHo130_provenance.
• NP395.RAwwrJH8_Zfqfy0Lu7uTA6FgPc4DBDEJ7Zzc_WSpv75CU130_assertion description "[Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP395.RAwwrJH8_Zfqfy0Lu7uTA6FgPc4DBDEJ7Zzc_WSpv75CU130_provenance.
• NP399.RAzLQbpTXppRDP2oLjCbgDwfiAYeP1f0hsvX0lYpBwZe0130_assertion description "[Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP399.RAzLQbpTXppRDP2oLjCbgDwfiAYeP1f0hsvX0lYpBwZe0130_provenance.
• NP401.RA7qtGtBllJdyFOcpnhiXDEDyWriXN_VoxkzVJFVgrTR8130_assertion description "[Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401.RA7qtGtBllJdyFOcpnhiXDEDyWriXN_VoxkzVJFVgrTR8130_provenance.
• NP403.RAwu7fVEMIovI4za_J-8kgMoDHE9xR_Acw_rmpzy0Lcig130_assertion description "[Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP403.RAwu7fVEMIovI4za_J-8kgMoDHE9xR_Acw_rmpzy0Lcig130_provenance.
• NP406.RAxwzPi6_N45bqN9wRxMQi-uYIrZ-nm7IhTZjgxvLcYp8130_assertion description "[Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP406.RAxwzPi6_N45bqN9wRxMQi-uYIrZ-nm7IhTZjgxvLcYp8130_provenance.
• NP408.RA14ljKFEuT0IRGA7Gfw9mye4zDxifdWDXDOjNO6_hltY130_assertion description "[APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP408.RA14ljKFEuT0IRGA7Gfw9mye4zDxifdWDXDOjNO6_hltY130_provenance.
• NP410.RAw61da2YdHZY1fdWjDIPsYrFOsqqRWXqRj2splQ1dD90130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP410.RAw61da2YdHZY1fdWjDIPsYrFOsqqRWXqRj2splQ1dD90130_provenance.
• NP415.RA0uswW-Nd1X8FKK5GlNpPkPY_iKFfIK77wfgi7RHZ7lk130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP415.RA0uswW-Nd1X8FKK5GlNpPkPY_iKFfIK77wfgi7RHZ7lk130_provenance.
• NP428.RAw4vKa4hoAxJc1sj2MqB4AfPjFhK9hUp2djFdu2cnd4w130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP428.RAw4vKa4hoAxJc1sj2MqB4AfPjFhK9hUp2djFdu2cnd4w130_provenance.
• NP436.RAytYfB_Sd6TPHomA1kixXfgMNdj_pwk_lpeZ-M-Y5IYM130_assertion description "[An Iranian family with Alzheimer's disease caused by a novel APP mutation (Thr714Ala).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP436.RAytYfB_Sd6TPHomA1kixXfgMNdj_pwk_lpeZ-M-Y5IYM130_provenance.
• NP437.RA4MLFJv0E4yCCUghHopN35bubzJWPH_4j_FXWTHXTYOI130_assertion description "[The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP437.RA4MLFJv0E4yCCUghHopN35bubzJWPH_4j_FXWTHXTYOI130_provenance.
• NP443.RA1XfmziO04E9kmqjskXRhFITIJEJxhudl3l3peUcPJEw130_assertion description "[Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP443.RA1XfmziO04E9kmqjskXRhFITIJEJxhudl3l3peUcPJEw130_provenance.
• NP451.RA0k_D21395POG6Ue4JNXQqiz_nEwtys1dkDakdH-Bm-Y130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP451.RA0k_D21395POG6Ue4JNXQqiz_nEwtys1dkDakdH-Bm-Y130_provenance.
• NP453.RA4WlyluhY9tDdDJmN8bfjzd7URvWwzp0phg7HGiDBZq8130_assertion description "[Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP453.RA4WlyluhY9tDdDJmN8bfjzd7URvWwzp0phg7HGiDBZq8130_provenance.
• NP458.RA7xe7hsmt0DC1c6G8r9I6yiPO00daDAK6IK287WpO_ks130_assertion description "[A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP458.RA7xe7hsmt0DC1c6G8r9I6yiPO00daDAK6IK287WpO_ks130_provenance.
• NP459.RAxJ78WHPJ7-2cYD11GHVMdlyJ1BRCmTeO1D3ERcY7r0c130_assertion description "[Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP459.RAxJ78WHPJ7-2cYD11GHVMdlyJ1BRCmTeO1D3ERcY7r0c130_provenance.
• NP465.RAxy4HZu0Pxx1IdAsBCnRhQhPgAroDhouXQiitzj0nuxQ130_assertion description "[Argininemia is an autosomal recessive disorder caused by a deficiency in the liver-type arginase enzyme.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP465.RAxy4HZu0Pxx1IdAsBCnRhQhPgAroDhouXQiitzj0nuxQ130_provenance.
• NP468.RA2DQqNsFa9FnySyDH1qGM4LozzkV7QP_Nnr_Yu4Jol-I130_assertion description "[The vital importance of collybistin for inhibitory synaptogenesis is underlined by the discovery of a mutation (G55A) in exon 2 of the human collybistin gene (ARHGEF9) in a patient with clinical symptoms of both hyperekplexia and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP468.RA2DQqNsFa9FnySyDH1qGM4LozzkV7QP_Nnr_Yu4Jol-I130_provenance.
• NP477.RA8LFbdvevtDRBfwFD5_kEXUm1CtNNpzCpr7WJi9U8tkM130_assertion description "[Arg607-Gln and Arg608-Lys point mutations in the DNA-binding domain of the AR gene have been associated with male breast cancer in partial androgen insensitivity syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP477.RA8LFbdvevtDRBfwFD5_kEXUm1CtNNpzCpr7WJi9U8tkM130_provenance.
• NP478.RA-iezYXrTzxP8h1GjyPIBy95yS7i41K1q3tuB0WcZT-s130_assertion description "[Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP478.RA-iezYXrTzxP8h1GjyPIBy95yS7i41K1q3tuB0WcZT-s130_provenance.
• NP479.RA62CVvKnngKui08_SfJoDwF2QxbWjKKOT_-6pwgjSOTI130_assertion description "[Partial androgen insensitivity and correlations with the predicted three dimensional structure of the androgen receptor ligand-binding domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP479.RA62CVvKnngKui08_SfJoDwF2QxbWjKKOT_-6pwgjSOTI130_provenance.
• NP480.RA7aJj6QwOixutFNL2v2B2kAaUZ2ILSeljxOQaEF9NW24130_assertion description "[Mutations of androgen receptor gene in Brazilian patients with male pseudohermaphroditism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP480.RA7aJj6QwOixutFNL2v2B2kAaUZ2ILSeljxOQaEF9NW24130_provenance.
• NP481.RA7awxAqS53fXDAHjZLyWrbP_GxBr-6u9IHnL1Z1c5tY4130_assertion description "[Trafficking of androgen receptor mutants fused to green fluorescent protein: a new investigation of partial androgen insensitivity syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP481.RA7awxAqS53fXDAHjZLyWrbP_GxBr-6u9IHnL1Z1c5tY4130_provenance.
• NP483.RA9G7s5idtxX2Juk50pNHj3QCPwAmr_smCWpveJK81SRc130_assertion description "[Characterization of a novel receptor mutation A-->T at exon 4 in complete androgen insensitivity syndrome and a carrier sibling via bidirectional polymorphism sequence analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP483.RA9G7s5idtxX2Juk50pNHj3QCPwAmr_smCWpveJK81SRc130_provenance.
• NP484.RAxIHsjx3nBJkSVr7sRLY5M8ewC1yJPWJ1N0-kM3ICF_E130_assertion description "[Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP484.RAxIHsjx3nBJkSVr7sRLY5M8ewC1yJPWJ1N0-kM3ICF_E130_provenance.
• NP486.RA_-Q1kmiPj4OhRf1HZgVTw-Pfyo-9dlnbu36A04kMgII130_assertion description "[Analysis of exon 1 mutations in the androgen receptor gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP486.RA_-Q1kmiPj4OhRf1HZgVTw-Pfyo-9dlnbu36A04kMgII130_provenance.
• NP490.RA_5Ts_GTecV24kY4yb80tpfaqyJjCN4rHQQtYx-pSXC4130_assertion description "[We have characterized two different mutations of the human androgen receptor (hAR) found in two unrelated subjects with androgen insensitivity syndrome (AIS): in one, the external genitalia were ambiguous (partial, PAIS); in the other, they were male, but small (mild, MAIS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP490.RA_5Ts_GTecV24kY4yb80tpfaqyJjCN4rHQQtYx-pSXC4130_provenance.
• NP492.RAycBK2Hw9ZhU_5erxL_VeOcDZKILoPhEestY_3q2vbds130_assertion description "[Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP492.RAycBK2Hw9ZhU_5erxL_VeOcDZKILoPhEestY_3q2vbds130_provenance.
• NP495.RA07cOFdk_EcuxQttMBZnFKH8eMIcnF_fJVIMqWOcuIKE130_assertion description "[The F219V substitution causes reduction in enzyme activity to an extent unexpected for an adult patient with MLD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP495.RA07cOFdk_EcuxQttMBZnFKH8eMIcnF_fJVIMqWOcuIKE130_provenance.
• NP498.RA_oafCgUkM1PFJ8i91rFWuQx_9BR9CMs1koCoR3ZA4CI130_assertion description "[Arylsulfatase A (ARSA) is a lysosomal enzyme implicated in most cases of metachromatic leukodystrophy (MLD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP498.RA_oafCgUkM1PFJ8i91rFWuQx_9BR9CMs1koCoR3ZA4CI130_provenance.
• NP502.RA8V4XMbxjs3SEceuJS5UYmrHQ5I0COwk5T-xZykUtwt4130_assertion description "[Maroteaux-Lamy syndrome, or mucopolysaccharidosis type VI (MPS-VI), is a lysosomal storage disorder characterized by the defective degradation of dermatan sulfate due to the deficiency of N-acetylgalactosamine-4-sulfatase (4S).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP502.RA8V4XMbxjs3SEceuJS5UYmrHQ5I0COwk5T-xZykUtwt4130_provenance.
• NP504.RA3bB7huoGQeGrCv7EwlD_lhqNx5IsYRb6sK268DqPL6I130_assertion description "[Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). An intermediate clinical phenotype caused by substitution of valine for glycine at position 137 of arylsulfatase B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP504.RA3bB7huoGQeGrCv7EwlD_lhqNx5IsYRb6sK268DqPL6I130_provenance.
• NP508.RA6HLTtOvy1q399xQW3cG9wee5DnF6tl9Xigg89uUkauw130_assertion description "[Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI, MPS VI) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ASB).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP508.RA6HLTtOvy1q399xQW3cG9wee5DnF6tl9Xigg89uUkauw130_provenance.
• NP512.RA70XQlsOWN8k5CVGN7EBWWJWfMubTeMCvAvPs6tvQNbc130_assertion description "[A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP512.RA70XQlsOWN8k5CVGN7EBWWJWfMubTeMCvAvPs6tvQNbc130_provenance.
• NP516.RA1DM-XpcYT5o3XCYRy1-gjFhb1zzUW3r4UIpxW3Vf3v4130_assertion description "[Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP516.RA1DM-XpcYT5o3XCYRy1-gjFhb1zzUW3r4UIpxW3Vf3v4130_provenance.

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