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Article

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.

Human mutation - 1 Jan 1997

St-Louis M, Tanguay R M

Abstract excerpt

Tyrosinemia type I is an inborn error of metabolism caused by a deficiency in the last enzyme of the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH). The disease has been reported worldwide with varying incidence. Recently, there has been considerable progress in identifying mutations in the FAH gene. At present 26 mutations have been reported, all consisting of single base substitutions resulting...

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Source

Identifiers

PMID: 9101289
DOI: 10.1002/(SICI)1098-1004(1997)9:4<291::AID-HUMU1>3.0.CO;2-9

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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Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: overview.PMID 9101289Read ↗

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Identification of the Mutations Spectrum in the Fumarylacetoacetate Hydrolase Gene in Tyrosinemia Type 1 Patients in Northeastern Iran.Semantic proximity Read ↗

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