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Article

Analysis of the genotype-phenotype correlation in patients with phenylketonuria in mainland China.

Scientific reports - 26 Jul 2018

Li Nana, He Chunhua, Li Jing, Tao Jing, Liu Zhen, Zhang Chunyan, Yuan Yuan, Jiang Hui, Zhu Jun, Deng Ying, Guo Yixiong, Li Qintong, Yu Ping, Wang Yanping

Abstract excerpt

Mutations in the gene encoding phenylalanine hydroxylase (PAH) are associated with various degrees of phenylketonuria (PKU). The aim of our study was to define the genotype-phenotype correlations of mutations in the PAH gene that cause phenylketonuria (PKU) among the Chinese mainland population. Mutations in the PAH gene were analysed by next-generation sequencing, and a genotype-phenotype correlation analysis...

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Identifiers

PMID: 30050108
DOI: 10.1038/s41598-018-29640-y
PMCID: PMC6062512

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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