Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

Abstract 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...

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Bibliographic Details
Main Authors: Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Medical Genetics
Subjects:
Phenylketonuria
Phenylalanine hydroxylase gene
PAH gene variant
MLPA
Online Access:http://link.springer.com/article/10.1186/s12881-017-0467-7

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