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...
Topics
- Alleles
- Animals
- Asian People
- Base Sequence
- Child, Preschool
- DNA
- Exons
- Female
- Genetic Testing
- Genotype
- Humans
- Infant
- Male