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PubMed 1903591 Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. We have identified three different tyrosinase gene mutant alleles in four unrelated patients with type IB ("yellow 1.31 KB 2015-11-24 8 10
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PubMed 1710599 Identification of mutations in exons 1 through 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Five different mutations have been identified in the gene causing cystic fibros 1.49 KB 2015-12-06 5 3
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PubMed 1648702 Use of the single strand conformation polymorphism technique and PCR to detect p53 gene mutations in small cell lung cancer. Recent studies have suggested that the p53 oncoprotein might function norma 1.68 KB 2015-11-20 7 5
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PubMed 2071149 Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications. Two missense mutations in the phenylalanine hydroxylase (PAH) genes of Orientals w 1.42 KB 2015-11-25 5 6
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PubMed 1867197 Compound heterozygosity in nonphenylketonuria hyperphenylalanemia: the contribution of mutations for classical phenylketonuria. Hyperphenylalaninemia (HPA) results from defective hydroxylation of phen 1.65 KB 2015-11-24 7 20
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PubMed 1679030 The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria. DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hyd 900 Bytes 2015-11-19 5 5
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PubMed 1715308 Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. Three mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene were discov 2.04 KB 2015-11-23 5 3
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PubMed 1652889 Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. Familial amyloidosis of Finnish type (FAF) is one of the familial am 1.55 KB 2015-11-19 7 6
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PubMed 1915502 Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation. Intrauterine growth retard 1.04 KB 2015-11-24 12 5
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PubMed 1918170 Transforming activity of mutant human p53 alleles. Mutant forms of the p53 gene have been shown to cooperate with an activated ras gene in transforming primary cells in culture. The aberrant proteins 1.13 KB 2015-11-24 5 5
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