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Article

Variations in genotype-phenotype correlations in phenylalanine hydroxylase deficiency in Chinese Han population.

Gene - 15 Oct 2013

Zhu Tianwen, Ye Jun, Han Lianshu, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Gu Xuefan

Abstract excerpt

BACKGROUND: The value of genotyping to predict variant phenotypes in patients with phenylalanine hydroxylase (Pah) deficiency is a matter of debate. However, there exists no comprehensive population relationship study focused on the Han Chinese. METHODS: We analyzed genotype-phenotype correlation for 186 different genotypes in 338 unrelated Chinese patients harboring 109 different Pah mutations. Two systems were...

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Identifiers

PMID: 23932990
DOI: 10.1016/j.gene.2013.07.079

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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