PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.

Abstract excerpt

Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences. We report a spectrum of PAH mutations complied from 35 PKU children who are all Chinese Han population from north Jiangsu in this study. All 13 exons and their flanking intron...

Topics

• Child, Preschool
• China
• Female
• Genetic Association Studies
• Humans
• Infant
• Male
• Mutation
• Mutation Rate
• Phenylalanine Hydroxylase
• Phenylketonurias