Article
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
Proceedings of the National Academy of Sciences of the United States of America - 15 Mar 1991
Wang T, Okano Y, Eisensmith R C, Harvey M L, Lo W H, Huang S Z, Zeng Y T, Yuan L F, Furuyama J I, Oura T
Abstract excerpt
A missense mutation has been identified in the human phenylalanine hydroxylase [PAH; phenylalanine 4-monooxygenase; L-phenylalanine, tetrahydrobiopterin:oxygen oxidoreductase (4-hydroxylating), EC 1.14.16.1] gene in a Chinese patient with classic phenylketonuria (PKU). A G-to-C transition at the second base of codon 413 in exon 12 of the gene results in the substitution of Pro413 for Arg413 in the mutant protein....
Topics
- Asian People
- Base Sequence
- China
- Female
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Pedigree