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Article

[Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients].

Medicina - 1 Jan 2006

Wolff Carlos F, Armas Rodolfo M, Frank Jorge, Poblete Pamela G

Abstract excerpt

In patients with porphyria cutanea tarda (PCT), hepatic iron accumulation associated to hereditary hemochromatosis (HH) could play a role in the etiology and in the clinical expression of the disease. The H63D and C282Y mutations of the HFE gene frequency were studied in a PCT group of patients and compared with the frequency observed in a group of volunteer blood donors. PCT patients were cataloged as hereditary...

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Source

Identifiers

PMID: 17137171

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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[Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients].PMID 17137171Read ↗

[Role of the hemochromatosis gene in prophyria cutanea tarda. Prospective study of 56 cases].Semantic proximity Read ↗

[Hemochromatosis: the most common of rare diseases].Semantic proximity Read ↗

[Significance and prevalence of the C282Y gene mutation of primary hemochromatosis in the pathogenesis of pophyria cutanea tarda].Semantic proximity Read ↗

C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.Semantic proximity Read ↗

[Are the hemochromatosis (HFE) gene mutation and hepatitis C virus (HCV) infection risk factors for porphyria cutanea tarda?].Semantic proximity Read ↗

The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection.Semantic proximity Read ↗

Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients.Semantic proximity Read ↗

Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.Semantic proximity Read ↗

[The hemochromatosis gene (HFE). Molecular analysis--diagnostic applications].Semantic proximity Read ↗

[Porphyria cutanea tarda. An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain].Semantic proximity Read ↗

Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda.Semantic proximity Read ↗

Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France.Semantic proximity Read ↗

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