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Article

Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

The Journal of clinical investigation - 1 Oct 1992

Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay R M

Abstract excerpt

Type 1 hereditary tyrosinemia (HT1) is a metabolic disorder caused by a deficiency of fumarylacetoacetate hydrolase (FAH). Using a full-length FAH cDNA and specific antibodies, we investigated liver specimens from seven unrelated HT1 patients (six of French Canadian and one of Scandinavian origin). The expression of FAH in livers of these individuals was analyzed at several molecular levels including mRNA,...

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Identifiers

PMID: 1401056
DOI: 10.1172/JCI115979
PMCID: PMC443158

Genes

FAH

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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.

Related research

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Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.PMID 1401056Read ↗

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1).Semantic proximity Read ↗

Different clinical forms of hereditary tyrosinemia (type I) in patients with identical genotypes.Semantic proximity Read ↗

Mutation spectrum of Tyrosinemia type I in Iran, A retrospective cohort study.Semantic proximity Read ↗

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

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.Semantic proximity Read ↗

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.Semantic proximity Read ↗

Two novel FAH gene mutations in a patient with hereditary tyrosinemia type I.Semantic proximity Read ↗

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.Semantic proximity Read ↗

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.Semantic proximity Read ↗

Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I.Semantic proximity Read ↗

Molecular Aspects of the FAH Mutations Involved in HT1 Disease.Semantic proximity Read ↗

Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.Semantic proximity Read ↗

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