Ontology highlight
ABSTRACT:
SUBMITTER: Li N
PROVIDER: S-EPMC4621502 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Li Nana N Jia Haitao H Liu Zhen Z Tao Jing J Chen Song S Li Xiaohong X Deng Ying Y Jin Xi X Song Jiaping J Zhang Liangtao L Liang Yu Y Wang Wei W Zhu Jun J
Scientific reports 20151027
Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism, mainly caused by a deficiency of phenylalanine hydroxylase (PAH). The incidence of various PAH mutations differs among race and ethnicity. Here we report a spectrum of PAH mutations complied from 796 PKU patients from mainland China. The all 13 exons and adjacent intronic regions of the PAH gene were determined by next-generation sequencing. We identified 194 different mutations, of which 41 are not r ...[more]