Article
Identification of a missense phenylketonuria mutation at codon 408 in Chinese.
Human genetics - 1 Aug 1992
Lin C H, Hsiao K J, Tsai T F, Chao H K, Su T S
Abstract excerpt
A single base transition of G to A at codon 408 of the phenylalanine hydroxylase gene is identified. This missense mutation results in the substitution of Arg408 for Gln408 (R408Q) and accounts for about 5% of phenylketonuria (PKU) chromosomes among Chinese. This mutation is in linkage disequilibrium with restriction fragment length polymorphism haplotype 4. In addition, another mutation (R408W), at the same...
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