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Article

Mutational spectrum of phenylketonuria in Jiangsu province.

European journal of pediatrics - 1 Oct 2015

Chen Ya-fen, Jia Hai-tao, Chen Zhong-hai, Song Jia-ping, Liang Yu, Pei Jing-jing, Wu Zhi-jun, Wang Jing, Qiu Ya-li, Liu Gang, Sun Dong-mei, Jiang Xin-ye

Abstract excerpt

UNLABELLED: Phenylketonuria (PKU) is caused by variants in the phenylalanine hydroxylase (PAH) gene. We systematically investigated all 13 exons of the PAH gene and their flanking introns in 31 unrelated patients and their parents using next-generation sequencing (NGS). A total of 33 different variants were identified in 58 of 62 mutant PAH alleles. The prevalent variants with a relative frequency of 5 % or more...

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Source

Identifiers

PMID: 25894915
DOI: 10.1007/s00431-015-2539-z

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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