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Article

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.

Advances in experimental medicine and biology - 1 Jan 2017

Morrow Geneviève, Angileri Francesca, Tanguay Robert M

Abstract excerpt

Hereditary tyrosinemia type 1 (HT1) is caused by the lack of fumarylacetoacetate hydrolase (FAH), the last enzyme of the tyrosine catabolic pathway. Up to now, around 100 mutations in the FAH gene have been associated with HT1, and despite many efforts, no clear correlation between genotype and clinical phenotype has been reported. At first, it seems that any mutation in the gene results in HT1. However, placing...

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Source

Identifiers

PMID: 28755182
DOI: 10.1007/978-3-319-55780-9_3

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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