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Article

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.

Clinical genetics - 1 Aug 2014

Pérez-Carro R, Sánchez-Alcudia R, Pérez B, Navarrete R, Pérez-Cerdá C, Ugarte M, Desviat L R

Abstract excerpt

Hereditary tyrosinemia type I (HT1) is a rare disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH) in the tyrosine catabolic pathway, resulting mainly in hepatic alterations due to accumulation of the toxic metabolites fumarylacetoacetate, maleylacetoacetate and succinylacetone. We have characterized using minigenes four splicing mutations affecting exonic or intronic nucleotides of the FAH gene...

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Identifiers

PMID: 23895425
DOI: 10.1111/cge.12243

Genes

FAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.PMID 23895425Read ↗

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