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PubMed 1775314 Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene. Mutations in the rhodopsin gene are associated with as many as one q 1.03 KB 2015-11-23 6 3
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PubMed 1686599 Molecular biology of prions causing infectious and genetic encephalopathies of humans as well as scrapie of sheep and BSE of cattle. Considerable progress has been made in deciphering the role of an a 2.61 KB 2015-11-19 10 3
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PubMed 1730092 Mutations of the p53 gene in adult T-cell leukemia. The p53 tumor suppressor gene was examined by direct sequencing of polymerase chain reaction-amplified DNA from fresh tumor cells of 10 patients wit 1 KB 2015-11-23 7 5
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PubMed 1730728 The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III hyperlipoproteinemia. Type III hyperlipopr 2.25 KB 2015-11-23 28 3
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PubMed 1737856 Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. Congenital erythropoietic porphyria (CEP), an inborn error of heme bio 1.73 KB 2015-11-23 8 5
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PubMed 1371263 Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF 1.54 KB 2015-11-22 5 7
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PubMed 1740503 Compound heterozygous mutations (Arg 239----stop, Pro 342----Thr) in the CYP17 (P45017 alpha) gene lead to ambiguous external genitalia in a male patient with partial combined 17 alpha-hydroxylase/17, 1.64 KB 2015-11-23 9 14
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PubMed 1536798 Molecular basis of chronic non-spherocytic haemolytic anaemia: a new G6PD variant (393 Arg----His) with abnormal KmG6P and marked in vivo instability. More than 80 genetic variants of glucose-6-phosph 1.5 KB 2015-11-19 5 3
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PubMed 1348851 Prion protein mutation at codon 102 in an Italian family with Gerstmann-Sträussler-Scheinker syndrome. We present the first family from Italy with the Gerstmann-Sträussler-Scheinker syndrome (GSS) and 492 Bytes 2015-11-18 12 5
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PubMed 1581215 A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one 1.2 KB 2015-11-19 8 3
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