Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Significance of H63D homozygosity in a Basque population with hemochromatosis.

Journal of gastroenterology and hepatology - 1 Jul 2010

Castiella Agustin, Zapata Eva, de Juan Maria Dolores, Otazua Pedro, Fernandez Javier, Zubiaurre Leire, Arriola Jose A

Abstract excerpt

BACKGROUND: The significance of H63D homozygosity remains uncertain, although it is associated with a tendency for patients to develop iron overload. AIMS: To study the prevalence of homozygotic H63D mutation in patients with phenotypic hemochromatosis (PH) and to compare the results with those of the general population and with patients with porphyria cutanea tarda (PCT) in the Basque Country, Spain. A secondary...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ferritins
Share to Hemochromatosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemochromatosis Protein

Share to Histocompatibility Antigens Class I

Share to Porphyria Cutanea Tarda

Share to Spectrophotometry, Atomic

Share to Transferrin

Source

Identifiers

PMID: 20594259
DOI: 10.1111/j.1440-1746.2010.06247.x

Genes

HFE

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Significance of H63D homozygosity in a Basque population with hemochromatosis.PMID 20594259Read ↗

Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country.Semantic proximity Read ↗

HFE genotype in patients with hemochromatosis and other liver diseases.Semantic proximity Read ↗

HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls.Semantic proximity Read ↗

Heterozygosity for the hemochromatosis gene in liver diseases--prevalence and effects on liver histology.Semantic proximity Read ↗

HFE gene mutations in patients with altered iron metabolism in Argentina.Semantic proximity Read ↗

Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy.Semantic proximity Read ↗

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

The significance of haemochromatosis gene mutations in the general population: implications for screening.Semantic proximity Read ↗

The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis.Semantic proximity Read ↗

H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload?Semantic proximity Read ↗

[Genotype and phenotypic expression of hereditary hemochromatosis in Spain].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.