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Article

[Analysis of clinical data and genetic mutations in three Chinese patients with tyrosinemia type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2012

Yang Nan, Han Lian-shu, Ye Jun, Qiu Wen-juan, Zhang Hui-wen, Gong Zhu-wen, Zhang Ya-fen, Wang Yu, Gu Xue-fan

Abstract excerpt

OBJECTIVE: To analyze clinical data and gene mutations in 3 Chinese patients with tyrosinemia type I, and to explore the correlation between genotypes and phenotypes. METHODS: Three patients suspected with tyrosinemia I were tested by tandem mass spectrometry for the level of tyrosine, phenylalan...

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Source

Identifiers

PMID: 23225041
DOI: 10.3760/cma.j.issn.1003-9406.2012.06.005

Genes

FAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23225041-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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