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Article

Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.

Chinese medical journal - 1 Jun 2012

Cao Yan-Yan, Zhang Yan-Ling, DU Juan, Qu Yu-Jin, Zhong Xue-Mei, Bai Jin-Li, Song Fang

Abstract excerpt

BACKGROUND: Mutations in fumarylacetoacetate hydrolase (FAH) gene can lead to tyrosinemia type 1 (HT1), a relatively rare autosomal recessive disorder. To date, no molecular genetic defects of HT1 in China have been described. We investigated a Chinese family with a HT1 child to identify mutation...

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Source

Identifiers

PMID: 22884142

Genes

FAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22884142-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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