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Article

Phenylketonuria mutations in Northern China.

Molecular genetics and metabolism - 1 Dec 2005

Song Fang, Qu Yu-jin, Zhang Ting, Jin Yu-wei, Wang Hong, Zheng Xiao-ying

Abstract excerpt

Mutation spectrum of phenylalanine hydroxylase (PAH) gene in patients with phenylketonuria (PKU) in Northern China is described with a discussion on genotype-phenotype correlation. By using PCR/SSCP and DNA sequencing, all exons of PAH gene in the 185 unrelated patients with PKU from Northern China were studied. A total of 70 different mutations, including 42 missense, 12 splice, 7 nonsense, 5 deletion, 3...

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Identifiers

PMID: 16256386
DOI: 10.1016/j.ymgme.2005.09.001

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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