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Article

Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

American journal of human genetics - 1 Aug 1994

Demers S I, Phaneuf D, Tanguay R M

Abstract excerpt

Hereditary tyrosinemia type 1 (HT1), a severe inborn error of tyrosine catabolism, is caused by deficiency of the terminal enzyme, fumarylacetoacetate hydrolase (FAH). The highest reported frequency of HT1 is in the French Canadian population, especially in the Saguenay-Lac-St-Jean region. Using human FAH cDNA probes, we have identified 10 haplotypes with TaqI, KpnI, RsaI, BglII, and MspI RFLPs in 118 normal...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 7913582
PMCID: PMC1918381

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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Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.PMID 7913582Read ↗

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

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A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.Semantic proximity Read ↗

Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.Semantic proximity Read ↗

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

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.Semantic proximity Read ↗

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