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PubMed 9831355 I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer. We describe a French Canadian hereditary non-polyposis colorectal cancer (HNPCC) kindred which ca 629 Bytes 2015-11-27 27 7
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PubMed 9358014 Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. Recent studies have shown that hereditary hemochromatosis (HH) is likely to be caused by homozygosity for a Cys282Tyr mutation in the HF 1.03 KB 2015-11-28 25 5
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PubMed 9554743 Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transpo 762 Bytes 2015-11-27 27 3
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PubMed 7550229 Molecular characterization of galactosemia (type 1) mutations in Japanese. We characterized two novel mutations of the galactose-1-phosphate uridyltransferase (GALT) gene in two Japanese patients with 1.55 KB 2015-11-27 11 7
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PubMed 1483696 The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada. Mutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequen 1.45 KB 2015-11-18 11 3
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PubMed 7581380 Myotonia levior is a chloride channel disorder. The group of dominant non-dystrophic myotonias, comprising disorders characterized by clinically similar forms of myogenic muscle stiffness, is genetica 1.25 KB 2015-11-27 11 3
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PubMed 9222760 Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. Classical galactosemia is caused by one common missense mutation (Q188R) and 1.21 KB 2015-03-12 26 12
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PubMed 9385378 A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA. Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal stora 1.29 KB 2015-11-27 27 3
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PubMed 9603435 W474C amino acid substitution affects early processing of the alpha-subunit of beta-hexosaminidase A and is associated with subacute G(M2) gangliosidosis. Mutations in the HEXA gene, encoding the alph 1.9 KB 2015-11-27 34 6
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PubMed 9521421 Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. Mucopolysaccharidosis IVA ( 1.96 KB 2015-03-12 25 6
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