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Article

Frequent mutation reversion inversely correlates with clinical severity in a genetic liver disease, hereditary tyrosinemia.

Human pathology - 1 Dec 2003

Demers Sylvie I, Russo Pierre, Lettre Francine, Tanguay Robert M

Abstract excerpt

Hereditary tyrosinemia type I (HTI), a severe disease affecting primarily the liver, is caused by a deficiency of fumarylacetoacetate hydrolase (FAH). HTI is clinically heterogeneous, with no correlation between genotype and phenotype. Reversion of FAH mutant alleles in livers of HTI patients was reported previously, but the clinical significance of this phenomenon has not been fully documented. In the present...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14691918
DOI: 10.1016/s0046-8177(03)00406-4

Genes

FAH

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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