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Article

Mutational spectrum of phenylketonuria in the Chinese Han population: a novel insight into the geographic distribution of the common mutations.

Pediatric research - 1 Mar 2010

Zhu Tianwen, Qin Shengying, Ye Jun, Qiu Wenjuan, Han Lianshu, Zhang Yafen, Gu Xuefan

Abstract excerpt

The absence of a comprehensive analysis for phenylketonuria (PKU) mutations in the Chinese Han population has resulted in continued studies during the past 18 y to elucidate the mutational spectrum in patients from virtually all Chinese regions. Our study systematically investigated 13 exons and their surrounding introns of the phenylalanine hydroxylase (PAH) gene in 212 unrelated patients using PCR and direct...

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Source

Identifiers

PMID: 19915519
DOI: 10.1203/PDR.0b013e3181c9fb85

Genes

PAH

Variants

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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