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Article

[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria].

Yi chuan = Hereditas - 1 Jan 2005

Song Fang, Jin Yu-Wei, Wang Hong, Zhang Yu-Min, Yang Yan-Ling, Zhang Ting

Abstract excerpt

To study mutation in exon 7 of the gene for the phenylalanine hydroxylase(PAH), the mutations in exon 7 and flanking sequence of PAH gene were detected by means of SSCP analysis and DNA sequencing, in 147 unrelated Chinese children with phynelketonuria and their parents. Thirteen different mutations, including 11 missense, 1 deletion and 1 splice mutation, were revealed in 90/294 mutant alleles (30.61%). The...

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Source

Identifiers

PMID: 15730960

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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