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Article

Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis.

Journal of hepatology - 1 Nov 1997

Datz C, Lalloz M R, Vogel W, Graziadei I, Hackl F, Vautier G, Layton D M, Maier-Dobersberger T, Ferenci P, Penner E, Sandhofer F, Bomford A, Paulweber B

Abstract excerpt

BACKGROUND/AIMS: Genetic haemochromatosis is the most common autosomal recessive disorder in Northern European populations. A major histocompatibility complex class I-like gene, HLA-H, has been proposed to be responsible for genetic haemochromatosis. The prevalence of HLA-H gene mutations 282(TGC; Cys/TAC; Tyr) and 63(CAT; His/GAT; Asp) was determined in patients of Austrian origin. METHODS: DNA extracted from...

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Source

Identifiers

PMID: 9382962
DOI: 10.1016/s0168-8278(97)80312-1

Genes

CAT

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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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Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis.PMID 9382962Read ↗

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Global prevalence of putative haemochromatosis mutations.Semantic proximity Read ↗

Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany.Semantic proximity Read ↗

Molecular analysis of HLA-H gene mutations in New Zealand patients with haemochromatosis.Semantic proximity Read ↗

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Frequency of the hemochromatosis C282Y and H63D mutations in a Polish population of Slavic origin.Semantic proximity Read ↗

Hemochromatosis and "HLA-H": definite!Semantic proximity Read ↗

High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population ‐implications for haemochromatosisSemantic proximity Read ↗

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Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.Semantic proximity Read ↗

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