Article
Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
BMC medical genetics - 5 Oct 2017
Liu Ning, Huang Qiuying, Li Qingge, Zhao Dehua, Li Xiaole, Cui Lixia, Bai Ying, Feng Yin, Kong Xiangdong
Abstract excerpt
BACKGROUND: Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. The aim of the present study was to characterize the PAH gene variants of a Han population from Northern China. METHODS:...
Topics
- Asian People
- Child, Preschool
- China
- DNA Copy Number Variations
- Exons
- Genetic Association Studies
- Genetic Variation
- Humans
- Infant
- Multiplex Polymerase Chain Reaction
- Phenylalanine Hydroxylase
- Phenylketonurias
- Prenatal Diagnosis