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Article

[Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Feb 2008

Qu Yu-jin, Song Fang, Jin Yu-wei, Wang Hong, Zhang Yu-min, Qin Jin-li, Qiu Lei

Abstract excerpt

OBJECTIVE: To identify the mutation spectrum and the distribution of minihaplotypes (STR/VNTR) of phenylalanine hydroxylase (PAH) gene and explore the correlations between genotype and phenotype of patients with phenylketonuria (PKU) in Beijing area of China. METHOD: (1) Fifty cases with PKU were involved in this study. PKU was identified by the Neonatal Screening Center of Beijing. All 13 exons and their...

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Identifiers

PMID: 19099685

Genes

PAH

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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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