Article
Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications.
Genomics - 1 Jun 1991
Wang T, Okano Y, Eisensmith R C, Lo W H, Huang S Z, Zeng Y T, Yuan L F, Liu S R, Woo S L
Abstract excerpt
Two missense mutations in the phenylalanine hydroxylase (PAH) genes of Orientals with phenylketonuria (PKU) have been identified. A G-to-A transition in exon 7 of the gene results in the substitution of Gln243 for Arg243 (R243Q) and accounts for 18% of all PKU chromosomes among Chinese. An A-to-G transition in exon 6 of the gene results in the substitution of Cys204 for Tyr204 (Y204C) and identifies about 13 and...
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