Matches in Nanopublications for { ?s <http://purl.org/dc/terms/description> ?o ?g. }
- NP2847.RA53ajWop-WfM5S1QT2WXL9k3eza5Y_bZvtxwX3Yni6xw130_assertion description "[Analysis for GNE mutations was performed in an American, non-Iranian Jewish, family with quadriceps-sparing inclusion body myopathy (QS-IBM) and in 11 patients with sporadic IBM (s-IBM).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2847.RA53ajWop-WfM5S1QT2WXL9k3eza5Y_bZvtxwX3Yni6xw130_provenance.
- NP2853.RAz6fAwnY0z23b-mZlFe6UqwuwQAZ6N7fyK0a-nUQyQeg130_assertion description "[Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2853.RAz6fAwnY0z23b-mZlFe6UqwuwQAZ6N7fyK0a-nUQyQeg130_provenance.
- NP2855.RA8OyTzhmGQQiXMX9oyPRw1lngWm6Av_qACGGIdzoIX5s130_assertion description "[Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2855.RA8OyTzhmGQQiXMX9oyPRw1lngWm6Av_qACGGIdzoIX5s130_provenance.
- NP2857.RA3i8ytUgosDyEJDjTO0N2YiTMJDk8KH7NGY85ZtHEW8M130_assertion description "[Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2857.RA3i8ytUgosDyEJDjTO0N2YiTMJDk8KH7NGY85ZtHEW8M130_provenance.
- NP2859.RA_RhE_5SwvyqHZSVSmBoFf2cu-m5NGhX74ZQV1jJXNoQ130_assertion description "[Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2859.RA_RhE_5SwvyqHZSVSmBoFf2cu-m5NGhX74ZQV1jJXNoQ130_provenance.
- NP2863.RAzmMKuqXrI7LQ30OsMeptF30mNdTkhSSgJsr9v3OQ01k130_assertion description "[Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2863.RAzmMKuqXrI7LQ30OsMeptF30mNdTkhSSgJsr9v3OQ01k130_provenance.
- NP2865.RAw3NyaDdN_o_oTuUuYUbMNrcx9AaykNj_rIssuKqHKPo130_assertion description "[Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2865.RAw3NyaDdN_o_oTuUuYUbMNrcx9AaykNj_rIssuKqHKPo130_provenance.
- NP2866.RA-E9D-TMx6wDi9e5D9nmqYDRO33Vr-AOKGcXHXVkegok130_assertion description "[Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2866.RA-E9D-TMx6wDi9e5D9nmqYDRO33Vr-AOKGcXHXVkegok130_provenance.
- NP2872.RA76s7woL1GMyrt_NzPqqIrbW-p-FzYWncp2eLokouGDQ130_assertion description "[Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2872.RA76s7woL1GMyrt_NzPqqIrbW-p-FzYWncp2eLokouGDQ130_provenance.
- NP2873.RA4vpp00QwzFOvGvnvNP2s2e5GVuVhAldYN6REsvnoXu0130_assertion description "[MPS IIID is caused by a deficiency of N-acetylglucosamine-6-sulphate sulphatase (GNS), one of the enzymes required for the degradation of heparan sulphate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2873.RA4vpp00QwzFOvGvnvNP2s2e5GVuVhAldYN6REsvnoXu0130_provenance.
- NP2882.RA-AsSKnAWKdwhqqQZhrN8PmgupuQJ51DLme-WhhGm3MA130_assertion description "[Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2882.RA-AsSKnAWKdwhqqQZhrN8PmgupuQJ51DLme-WhhGm3MA130_provenance.
- NP2884.RA6uSo57-UFLy0P611_-vlStlNwLSk2LVLfP0DLuAoyto130_assertion description "[Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2884.RA6uSo57-UFLy0P611_-vlStlNwLSk2LVLfP0DLuAoyto130_provenance.
- NP2888.RA94vVmeUG3FUgX6Ng8TIsXspdn8yV1mnNQy-RHA9kE7Y130_assertion description "[A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2888.RA94vVmeUG3FUgX6Ng8TIsXspdn8yV1mnNQy-RHA9kE7Y130_provenance.
- NP2894.RA1iXJkwfm01tU9cAkmRX2XUMjiv1Nz7JRCv48BI4kQ9g130_assertion description "[Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2894.RA1iXJkwfm01tU9cAkmRX2XUMjiv1Nz7JRCv48BI4kQ9g130_provenance.
- NP2907.RA6ddVFMI_Katgj51kYW4U9WCFhiBYVicz_sUfs4aGL30130_assertion description "[Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2907.RA6ddVFMI_Katgj51kYW4U9WCFhiBYVicz_sUfs4aGL30130_provenance.
- NP2908.RA4QCPofyHpo3J-2v3YFhxyiBEF_GvbO0O6b_3cjFq2-o130_assertion description "[Eight previously unidentified mutations found in the OA1 ocular albinism gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2908.RA4QCPofyHpo3J-2v3YFhxyiBEF_GvbO0O6b_3cjFq2-o130_provenance.
- NP2915.RA9sE6zPokqK1M2P6JAwVoignh1XpEmubV7lWvpSi1lmc130_assertion description "[Here, we show that mutations in GPR56, which encodes an orphan G protein-coupled receptor (GPCR) with a large extracellular domain, cause a human brain cortical malformation called bilateral frontoparietal polymicrogyria (BFPP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2915.RA9sE6zPokqK1M2P6JAwVoignh1XpEmubV7lWvpSi1lmc130_provenance.
- NP2919.RAyh-Y0nKNndwF6ilJo2CSiU853N4zU-nOCWY0kZn8fvc130_assertion description "[Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2919.RAyh-Y0nKNndwF6ilJo2CSiU853N4zU-nOCWY0kZn8fvc130_provenance.
- NP2921.RA34okf-Hhjdp4Z1bp4YodVxuC7eef4nRIm9McBt7VXqg130_assertion description "[Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome translocation breakpoints in individuals with mental retardation and/or epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2921.RA34okf-Hhjdp4Z1bp4YodVxuC7eef4nRIm9McBt7VXqg130_provenance.
- NP2925.RA7-G35xCaR7d_sqPMfyWq9oFhz9qN0xU5beGgpo47Dcg130_assertion description "[Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2925.RA7-G35xCaR7d_sqPMfyWq9oFhz9qN0xU5beGgpo47Dcg130_provenance.
- NP2927.RA9_LI75gt0FrGQLvPqoK3dI-HUm5O41ifPz8t930S8VM130_assertion description "[We also provide sequence data of GRXCR1 from humans with profound hearing loss suggesting that pirouette is a model for studying the mechanism of nonsyndromic deafness DFNB25.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2927.RA9_LI75gt0FrGQLvPqoK3dI-HUm5O41ifPz8t930S8VM130_provenance.
- NP2935.RAzl3nhUXkbK8c6gpArG9TqM22apnKDLdZGbfAvqYBB0s130_assertion description "[Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2935.RAzl3nhUXkbK8c6gpArG9TqM22apnKDLdZGbfAvqYBB0s130_provenance.
- NP2937.RA194Q9BWk3C7ODSH4eKlY74WrWxySN4n01OZN2AyH0es130_assertion description "[Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2937.RA194Q9BWk3C7ODSH4eKlY74WrWxySN4n01OZN2AyH0es130_provenance.
- NP2940.RA-iFfXXsrdJnXsjhh9JHByGyMeOhrjAM8GzGzE8X-3nU130_assertion description "[Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2940.RA-iFfXXsrdJnXsjhh9JHByGyMeOhrjAM8GzGzE8X-3nU130_provenance.
- NP2945.RA2I8Ppaox93AStsVQ0TCk5pw8-yyXLOGpn1qvMNUOUpk130_assertion description "[Four prior mutations have been reported in three patients with beta-glucuronidase deficiency mucopolysaccharidosis (MPS VII), none of whom had the severe, infantile, hydropic form of the disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2945.RA2I8Ppaox93AStsVQ0TCk5pw8-yyXLOGpn1qvMNUOUpk130_provenance.
- NP2950.RAw3yBWhIUOB3CJamJnVFFcTmMrtfUdHztZNs3UG6k9Bs130_assertion description "[Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2950.RAw3yBWhIUOB3CJamJnVFFcTmMrtfUdHztZNs3UG6k9Bs130_provenance.
- NP2951.RA7ostlOXZfUTXJPS5mg69WmuhpRd7D4qzPB0cF1Jf6AE130_assertion description "[Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2951.RA7ostlOXZfUTXJPS5mg69WmuhpRd7D4qzPB0cF1Jf6AE130_provenance.
- NP2957.RA4toh1i8DEdUkg7mJRmir1L8HT2r_JAnzqJ2FtuSIAI4130_assertion description "[Inactivating mutations in the enzyme hexose-6-phosphate dehydrogenase (H6PDH, encoded by H6PD) cause apparent cortisone reductase deficiency (ACRD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2957.RA4toh1i8DEdUkg7mJRmir1L8HT2r_JAnzqJ2FtuSIAI4130_provenance.
- NP2965.RA87plPRODRQvlKf7QNmfcxNj8bVAp2HPm7aX0IFJWB2U130_assertion description "[Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2965.RA87plPRODRQvlKf7QNmfcxNj8bVAp2HPm7aX0IFJWB2U130_provenance.
- NP2968.RAwwED5d_kyUrylKP5xKJ895OJZuJ6_Lp2JUC6O81sj8I130_assertion description "[A novel missense mutation in the HAX1 gene in severe congenital neutropenia patients (Kostmann disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2968.RAwwED5d_kyUrylKP5xKJ895OJZuJ6_Lp2JUC6O81sj8I130_provenance.
- NP2984.RAz-lP5H_Ppkh4o7C8Yv09_PsHptLA1ENPqT9dAyCVTX4130_assertion description "[Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2984.RAz-lP5H_Ppkh4o7C8Yv09_PsHptLA1ENPqT9dAyCVTX4130_provenance.
- NP2988.RA6osxTGkcytW6lIvR4NZ2cgB_A5LZi8_IB6A9mLPxp7g130_assertion description "[Tay-Sachs disease and HEXA mutations among Moroccan Jews.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2988.RA6osxTGkcytW6lIvR4NZ2cgB_A5LZi8_IB6A9mLPxp7g130_provenance.
- NP2991.RA5ti1GqKTT1OJNt60fs-_LYvlP_1jw88ryqwyD8IQkFY130_assertion description "[We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2991.RA5ti1GqKTT1OJNt60fs-_LYvlP_1jw88ryqwyD8IQkFY130_provenance.
- NP2994.RA0bB4mAo946sIP3NuRkLVUzboaaUUgupdK3kQZSdoQVQ130_assertion description "[Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2994.RA0bB4mAo946sIP3NuRkLVUzboaaUUgupdK3kQZSdoQVQ130_provenance.
- NP2995.RAzUvWDJ2K4NbGuC5UPnOoFtX3cTzsORMd_7Zfk78onxg130_assertion description "[Two novel (1334delC and 1363G to A, G455R) mutations in exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2995.RAzUvWDJ2K4NbGuC5UPnOoFtX3cTzsORMd_7Zfk78onxg130_provenance.
- NP3001.RA5PozPLs6V-Jel0Fzce1ZopEHMpxTdnzwlzNR-pQmxGE130_assertion description "[Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3001.RA5PozPLs6V-Jel0Fzce1ZopEHMpxTdnzwlzNR-pQmxGE130_provenance.
- NP3005.RA0r97aOv53YtR1MmXnA4cRTXt8SDUgmu4Hkpa5RmJF4U130_assertion description "[Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3005.RA0r97aOv53YtR1MmXnA4cRTXt8SDUgmu4Hkpa5RmJF4U130_provenance.
- NP3006.RA0kYOiNhLZ4Lu-604ZiRsGaaj8Wa-HQl5OspQUqD0MFM130_assertion description "[Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3006.RA0kYOiNhLZ4Lu-604ZiRsGaaj8Wa-HQl5OspQUqD0MFM130_provenance.
- NP3011.RA36AvAC2irt79s4O465Pt07llm0TUDnGmvUMakZRsXRc130_assertion description "[The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3011.RA36AvAC2irt79s4O465Pt07llm0TUDnGmvUMakZRsXRc130_provenance.
- NP3018.RA_z7ol3OR6mntsu1V5E3SJI_YE3BOX0fACHFZAJdB2RM130_assertion description "[A novel point mutation associated with alkaptonuria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3018.RA_z7ol3OR6mntsu1V5E3SJI_YE3BOX0fACHFZAJdB2RM130_provenance.
- NP3030.RA_XEx6h_rRTI5HsM7kzBtLRSQPo4DMCxonZT-BHINh8s130_assertion description "[Multiple carboxylase deficiency is a clinical condition caused by defects in the enzymes involved in biotin metabolism, holocarboxylase synthetase (HLCS) or biotinidase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3030.RA_XEx6h_rRTI5HsM7kzBtLRSQPo4DMCxonZT-BHINh8s130_provenance.
- NP3033.RA6kZc2Gt__UVqm6v_T2ajfKGWSV9i9QwvpXPx44u6_1A130_assertion description "[Mutations in the holocarboxylase synthetase gene HLCS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3033.RA6kZc2Gt__UVqm6v_T2ajfKGWSV9i9QwvpXPx44u6_1A130_provenance.
- NP3034.RA28vyQcJfw6jSFkdThhKhiOB9N3xSL4HeFltArANfiLY130_assertion description "[Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3034.RA28vyQcJfw6jSFkdThhKhiOB9N3xSL4HeFltArANfiLY130_provenance.
- NP3038.RA7CntT659b5FlcPOpONWCRybGXaj3ACdqoSnmdzfthk8130_assertion description "[Our results demonstrate that molecular analysis of the PBGD gene is a more reliable method comparing to enzymatic assay in the diagnosis of AIP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3038.RA7CntT659b5FlcPOpONWCRybGXaj3ACdqoSnmdzfthk8130_provenance.
- NP3041.RA8KRlOwk5dlDJyMniztlaa5UvUy1BRePwxUAaSlhT3Lw130_assertion description "[Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3041.RA8KRlOwk5dlDJyMniztlaa5UvUy1BRePwxUAaSlhT3Lw130_provenance.
- NP3044.RA4EqQBJFOv1jsedOiiTCAloFbi8_551CCs7Oiq14BLsw130_assertion description "[Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3044.RA4EqQBJFOv1jsedOiiTCAloFbi8_551CCs7Oiq14BLsw130_provenance.
- NP3046.RA4KTLrENIUysPiS5iodFR3-2Y-fT3_Tz_UEZTtbqLmh4130_assertion description "[HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3046.RA4KTLrENIUysPiS5iodFR3-2Y-fT3_Tz_UEZTtbqLmh4130_provenance.
- NP3048.RA-bkDI9WSnMVKloyiAJjLFi-HSqTfdDrABT0BhnD5aMA130_assertion description "[]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3048.RA-bkDI9WSnMVKloyiAJjLFi-HSqTfdDrABT0BhnD5aMA130_provenance.
- NP3055.RA4PhXzgRI5AZRNwYBpMp3e9XvvNNzf8A7AsMmqzYtnS0130_assertion description "[Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3055.RA4PhXzgRI5AZRNwYBpMp3e9XvvNNzf8A7AsMmqzYtnS0130_provenance.
- NP3056.RA9c1jAWfiOVKX2FKkEGFWTl5OVqSccJXxqB2YM8ltZ0w130_assertion description "[Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3056.RA9c1jAWfiOVKX2FKkEGFWTl5OVqSccJXxqB2YM8ltZ0w130_provenance.
- NP3059.RA_5_-HxsZd-iN4B50B8vfTUAoVNlZCHHlY3JffPtOcdE130_assertion description "[Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3059.RA_5_-HxsZd-iN4B50B8vfTUAoVNlZCHHlY3JffPtOcdE130_provenance.
- NP3063.RA1BKEbZm9pI_iGV9Hhlq6mAmAGm7xeXb98w8etrH_RQg130_assertion description "[Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having Type I diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3063.RA1BKEbZm9pI_iGV9Hhlq6mAmAGm7xeXb98w8etrH_RQg130_provenance.
- NP3065.RA_jZzTL8sjSoCW-39plS1yisfazqoIkOROiC2XBqn6lA130_assertion description "[Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3065.RA_jZzTL8sjSoCW-39plS1yisfazqoIkOROiC2XBqn6lA130_provenance.
- NP3068.RAxqNvdl7yaca-2sY7z_ua2oQKgOI7E-AWnYEVb56rZ4E130_assertion description "[Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3068.RAxqNvdl7yaca-2sY7z_ua2oQKgOI7E-AWnYEVb56rZ4E130_provenance.
- NP3072.RA-UKWkvF9sNteXW8BUWFEYC4OicXee3OyIkNHBm0z54Y130_assertion description "[Nonsense and missense mutations in the human hepatocyte nuclear factor-1 beta gene (TCF2) and their relation to type 2 diabetes in Japanese.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3072.RA-UKWkvF9sNteXW8BUWFEYC4OicXee3OyIkNHBm0z54Y130_provenance.
- NP3073.RAzO-TxtDlFFfm4pu93Xyufn5rYQeT7DZyh-p3yFUp1gI130_assertion description "[Identification of a gain-of-function mutation in the HNF-1beta gene in a Japanese family with MODY.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3073.RAzO-TxtDlFFfm4pu93Xyufn5rYQeT7DZyh-p3yFUp1gI130_provenance.
- NP3076.RA_YZrQTnFdRQtCgEAGJueCQFMqk3GIBRX0_FBsRWJe-s130_assertion description "[Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3076.RA_YZrQTnFdRQtCgEAGJueCQFMqk3GIBRX0_FBsRWJe-s130_provenance.
- NP3083.RAxnp44QH2WxS_HYB7AUVuyurEGoUKCurhXC1JvMXFyDo130_assertion description "[A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3083.RAxnp44QH2WxS_HYB7AUVuyurEGoUKCurhXC1JvMXFyDo130_provenance.
- NP3084.RAx8jS6nTMRtWj66kdLFyxVYaI8FKhlK4z1Q3M87PKW3k130_assertion description "[Mutations in DHDPSL are responsible for primary hyperoxaluria type III.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3084.RAx8jS6nTMRtWj66kdLFyxVYaI8FKhlK4z1Q3M87PKW3k130_provenance.
- NP3087.RA0F1uGmFcLxgylXwYbArIpr3ELC7kFQe4qlJI50gEvPg130_assertion description "[A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3087.RA0F1uGmFcLxgylXwYbArIpr3ELC7kFQe4qlJI50gEvPg130_provenance.
- NP3090.RA5b6xiW09JKrleQWuvkSqfHBCMp5K-UjmJp75CUbgHYU130_assertion description "[Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3090.RA5b6xiW09JKrleQWuvkSqfHBCMp5K-UjmJp75CUbgHYU130_provenance.
- NP3104.RA-v7qE94BKMIpPNSlIGfjAV8F1_Aq3A9NWkEvu9FVDOc130_assertion description "[Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3104.RA-v7qE94BKMIpPNSlIGfjAV8F1_Aq3A9NWkEvu9FVDOc130_provenance.
- NP3109.RA2MQ2C5UXDH8AOSq5rRMOLV4YWt7vlc_SRSLHiYYBkgc130_assertion description "[The direct sequencing of the polymerase chain reaction-amplified product of reverse-transcribed HPRT mRNA enabled the rapid identification of the mutations found in 17 previously uncharacterized cell lines derived from patients with the Lesch-Nyhan syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3109.RA2MQ2C5UXDH8AOSq5rRMOLV4YWt7vlc_SRSLHiYYBkgc130_provenance.
- NP3116.RA9GTfaI7dFio8mu6r5UdfQYJ3ksp0Un5BFNbNV0H3bEU130_assertion description "[Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3116.RA9GTfaI7dFio8mu6r5UdfQYJ3ksp0Un5BFNbNV0H3bEU130_provenance.
- NP3117.RAy1XzC5jdbSiPmWmF7SMVlu8Sym8p-YTFjjCrbgLA3IE130_assertion description "[HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3117.RAy1XzC5jdbSiPmWmF7SMVlu8Sym8p-YTFjjCrbgLA3IE130_provenance.
- NP3131.RAzCPgyWD7KdNnCAcqX5NIlNd72vOOF98LDKcSI1KuLZU130_assertion description "[Molecular basis for hypertension in the `type II variant` of apparent mineralocorticoid excess.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3131.RAzCPgyWD7KdNnCAcqX5NIlNd72vOOF98LDKcSI1KuLZU130_provenance.
- NP3135.RA98rmBDQJtW87sBonf2PKmp0k8GKWjA_deYxXGHzki0w130_assertion description "[2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3135.RA98rmBDQJtW87sBonf2PKmp0k8GKWjA_deYxXGHzki0w130_provenance.
- NP3136.RAyFUeq3ksC-WzO6_V6M592ctaOz7rwJht-oMl3Qh0OuA130_assertion description "[Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3136.RAyFUeq3ksC-WzO6_V6M592ctaOz7rwJht-oMl3Qh0OuA130_provenance.
- NP3137.RAx3SKzpIjE3ss_5H8lrKQRYqohQ-gkFhmGp7hW-wta0w130_assertion description "[A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3137.RAx3SKzpIjE3ss_5H8lrKQRYqohQ-gkFhmGp7hW-wta0w130_provenance.
- NP3146.RA-PsY817OUBlYPqWw-hMrPXEbDZ2QMJiS5VjvTNNPznY130_assertion description "[A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3146.RA-PsY817OUBlYPqWw-hMrPXEbDZ2QMJiS5VjvTNNPznY130_provenance.
- NP3147.RA1YcQDatRJq54dKJJCuE9hhLetKQvSVZMjhARoi9t7BA130_assertion description "[A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3147.RA1YcQDatRJq54dKJJCuE9hhLetKQvSVZMjhARoi9t7BA130_provenance.
- NP3150.RA-O6zRI9zgYzbC6nTgm4tA3zrFOL-r5OdR0g7ueS00Ss130_assertion description "[Nonsalt-losing male pseudohermaphroditism due to the novel homozygous N100S mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3150.RA-O6zRI9zgYzbC6nTgm4tA3zrFOL-r5OdR0g7ueS00Ss130_provenance.
- NP3151.RA7e6X9jAlSSnw0Zp9nBKLZJqg2rmGYVf5ebWZFY7yu0U130_assertion description "[Identification and characterization of the G15D mutation found in a male patient with 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency: alteration of the putative NAD-binding domain of type II 3 beta-HSD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3151.RA7e6X9jAlSSnw0Zp9nBKLZJqg2rmGYVf5ebWZFY7yu0U130_provenance.
- NP3157.RA61VXLcfArbXniz2FHu3s6Vv1kpsfPFKWBG7jNvwW6kM130_assertion description "[Novel HSF4 mutation causes congenital total white cataract in a Chinese family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3157.RA61VXLcfArbXniz2FHu3s6Vv1kpsfPFKWBG7jNvwW6kM130_provenance.
- NP3158.RA44PHfSHWBSyCZsJhwYxlaGjFbhI44MNZLh959Y__Mmg130_assertion description "[Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3158.RA44PHfSHWBSyCZsJhwYxlaGjFbhI44MNZLh959Y__Mmg130_provenance.
- NP3160.RAys6-GhvSWBi8TXx2fmQc20Sg3VoFhjPoNUE7iAei_hU130_assertion description "[The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3160.RAys6-GhvSWBi8TXx2fmQc20Sg3VoFhjPoNUE7iAei_hU130_provenance.
- NP3162.RA-ygOQTwf_WYQDZgmcnh75lS2HoekyJ5B62f47bYpzH8130_assertion description "[Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3162.RA-ygOQTwf_WYQDZgmcnh75lS2HoekyJ5B62f47bYpzH8130_provenance.
- NP3165.RAwJViucgaO15ORdYxv3vf8IYfUmzYWoghQFYMk_NminY130_assertion description "[Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3165.RAwJViucgaO15ORdYxv3vf8IYfUmzYWoghQFYMk_NminY130_provenance.
- NP3171.RA4ejHH70MXnldm9q-IHHefxjpzWsESlqee4ilG3XJ2tQ130_assertion description "[Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3171.RA4ejHH70MXnldm9q-IHHefxjpzWsESlqee4ilG3XJ2tQ130_provenance.
- NP3175.RAwtheihCzB2Nqwb-AA3tFbYihjg0ZluzfZwL_wpgxQ74130_assertion description "[Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcripts.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3175.RAwtheihCzB2Nqwb-AA3tFbYihjg0ZluzfZwL_wpgxQ74130_provenance.
- NP3179.RA5qR4T9_t2GpMpOizbEvMBo0cHwlJrX8GgeogRMZo9NA130_assertion description "[MPS II in females: molecular basis of two different cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3179.RA5qR4T9_t2GpMpOizbEvMBo0cHwlJrX8GgeogRMZo9NA130_provenance.
- NP3182.RAx3GRFf6P2IBGYw1X6u82_lbIYCnodmb96viWrRNfVhw130_assertion description "[Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3182.RAx3GRFf6P2IBGYw1X6u82_lbIYCnodmb96viWrRNfVhw130_provenance.
- NP3184.RAylRYV52aGx2vll_FOG_aVlKwdPI4u7ubweB5AMQQXOA130_assertion description "[Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3184.RAylRYV52aGx2vll_FOG_aVlKwdPI4u7ubweB5AMQQXOA130_provenance.
- NP3203.RA6ZKGO6DRQ1J5jr13XqLM2HYRz8vwvfpnIxndpUGyH0Q130_assertion description "[We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNgammaR2 chain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3203.RA6ZKGO6DRQ1J5jr13XqLM2HYRz8vwvfpnIxndpUGyH0Q130_provenance.
- NP3205.RAyhMPPNGIX_qJDvrGbfjp028Cj-8hmgBZpIMo2VnuSJc130_assertion description "[Through a combination of ciliome resequencing and Sanger sequencing, we identified IFT140 mutations in six MSS families and in a family with the clinically overlapping Jeune syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3205.RAyhMPPNGIX_qJDvrGbfjp028Cj-8hmgBZpIMo2VnuSJc130_provenance.
- NP3213.RAxe5Fr6CCPId7tI6LA4VPdipTg2zEmfbSzkUF1WXUuso130_assertion description "[A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3213.RAxe5Fr6CCPId7tI6LA4VPdipTg2zEmfbSzkUF1WXUuso130_provenance.
- NP3217.RAzoYN6Nq1uGjEpqaSO1Q1mL1tOlwI5xClc9kx8njZeEE130_assertion description "[Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3217.RAzoYN6Nq1uGjEpqaSO1Q1mL1tOlwI5xClc9kx8njZeEE130_provenance.
- NP3219.RA7ZZzcbHw018yevXcd-Nhgzaacm7Okm_wYAyaAuWr--g130_assertion description "[These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3219.RA7ZZzcbHw018yevXcd-Nhgzaacm7Okm_wYAyaAuWr--g130_provenance.
- NP3223.RA7SMtV0YiMYr2AEQy5BvpDTDViYSuuEhHQFh6_ZXZeDo130_assertion description "[X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3223.RA7SMtV0YiMYr2AEQy5BvpDTDViYSuuEhHQFh6_ZXZeDo130_provenance.
- NP3228.RA1UOqn2ffIE3J5G5oTTeiXeIAVSYsSrQQMXWwu3yGLZY130_assertion description "[X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3228.RA1UOqn2ffIE3J5G5oTTeiXeIAVSYsSrQQMXWwu3yGLZY130_provenance.
- NP3230.RAzk-tyyKkWXvGTh0j-4eDlP4WA3h2tCh85Vc2eZofT0g130_assertion description "[Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3230.RAzk-tyyKkWXvGTh0j-4eDlP4WA3h2tCh85Vc2eZofT0g130_provenance.
- NP3234.RA28zDOMj6P3BXD4yF0lIf6_4th38GfSh-HjiFjay795w130_assertion description "[X-linked severe combined immunodeficiency disease (SCID) results from mutations of IL2RG, the gene encoding the interleukin-2 receptor gamma chain, also known as the common gamma chain (gamma c).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3234.RA28zDOMj6P3BXD4yF0lIf6_4th38GfSh-HjiFjay795w130_provenance.
- NP3237.RA8RzXKpHjWvkBAuc2i3TM3DQBMmx1_tYLAfY7yDLdtO0130_assertion description "[Mutations at these two hotspots constitute > 20% of the X-linked SCID mutations found by our group and a similar proportion of all reported IL2RG mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3237.RA8RzXKpHjWvkBAuc2i3TM3DQBMmx1_tYLAfY7yDLdtO0130_provenance.
- NP3239.RA0Zn-fxBtaVROU2wR57FWLwEqq6KK-Q42yhY-iRGeFlw130_assertion description "[Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3239.RA0Zn-fxBtaVROU2wR57FWLwEqq6KK-Q42yhY-iRGeFlw130_provenance.
- NP3242.RA3dwTv6T0ZRmI2dko3AqH0886vp_WoFnQfi2KjPg6QYk130_assertion description "[The demonstration of impaired IL2RG mRNA expression in males with X-linked SCID and of unique point mutations in SCIDX1 pedigrees constitutes powerful evidence that the SCIDX1 gene is IL2RG.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3242.RA3dwTv6T0ZRmI2dko3AqH0886vp_WoFnQfi2KjPg6QYk130_provenance.
- NP3243.RA0TShab7OMpdTBSK_aPbrfjX-Zs3CG6Lhqc4meD7rS1I130_assertion description "[An interleukin-2 receptor gamma chain mutation with normal thymus morphology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3243.RA0TShab7OMpdTBSK_aPbrfjX-Zs3CG6Lhqc4meD7rS1I130_provenance.
- NP3245.RA9gUhUmUfD9lbEueCBkngkq0L6X4BN4MLvgnS4B3bhH4130_assertion description "[Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3245.RA9gUhUmUfD9lbEueCBkngkq0L6X4BN4MLvgnS4B3bhH4130_provenance.
- NP3247.RA6nirNvrhWH0iKYa0U_1Jf-JZRudPTwtGt6kWutVqCMw130_assertion description "[Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3247.RA6nirNvrhWH0iKYa0U_1Jf-JZRudPTwtGt6kWutVqCMw130_provenance.
- NP3262.RAw64S6Xlhco-tiWEadQZqkygvePtHGLlzZxsOLWSm5Kk130_assertion description "[Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3262.RAw64S6Xlhco-tiWEadQZqkygvePtHGLlzZxsOLWSm5Kk130_provenance.
- NP3263.RA36XbuGiAlf7Dw7TpwER110Qxq72nkwDsGlxcAh-EQoc130_assertion description "[Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3263.RA36XbuGiAlf7Dw7TpwER110Qxq72nkwDsGlxcAh-EQoc130_provenance.