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Article

High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population ‐implications for haemochromatosis

1 Nov 1998

Abstract excerpt

A simple PCR-SSOP approach based on a single PCR product has been developed to screen the HFE gene for the haemochromatosis-associated mutations Cys 282 Tyr and His 63 Asp. Using this approach the prevalence of these mutations in a cohort (30) of haemochromatosis patients and normal controls (404) was determined. Ninety percent of the haemochromatosis patients were homozygous for the Cys 282 Tyr mutation. In the...

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Identifiers

PMID: 9864039
DOI: 10.1111/j.1399-0039.1998.tb03076.x

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population ‐implications for haemochromatosisPMID 9864039Read ↗

Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism.Semantic proximity Read ↗

Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.Semantic proximity Read ↗

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.Semantic proximity Read ↗

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

High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression.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 ↗

Detection of C282Y and H63D in the HFE gene.Semantic proximity Read ↗

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

The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.Semantic proximity Read ↗

HFE codon 63/282 (H63D/C282Y) dimorphism in German patients with genetic hemochromatosis.Semantic proximity Read ↗

Hemochromatosis mutations C282Y and H63D in 'cis' phase.Semantic proximity Read ↗

Global prevalence of putative haemochromatosis mutations.Semantic proximity Read ↗

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