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Article

New HJV mutation in a patient with hyperferritinemia and H63D homozygosity for the HFE gene.

International journal of hematology - 1 Nov 2007

de Diego Carles, Opazo Sonsoles, Sánchez-Castaño Angel, Martínez-Castro Pedro

Abstract excerpt

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Topics

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Share to Base Sequence
Share to Ferritins
Share to GPI-Linked Proteins
Share to Hemochromatosis Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Histocompatibility Antigens Class I

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Source

Identifiers

PMID: 18055350
DOI: 10.1532/IJH97.E0748

Genes

HFE
HJV

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New HJV mutation in a patient with hyperferritinemia and H63D homozygosity for the HFE gene.PMID 18055350Read ↗

A new polymorphism in the human HFE gene.Semantic proximity Read ↗

Is H63D a 'minor' HFE polymorphism?Semantic proximity Read ↗

Effect of the new HJV-L165X mutation on penetrance of HFE.Semantic proximity Read ↗

H63D mutation in HFE gene is common in Indians and is associated with the European haplotype.Semantic proximity Read ↗

Cardiac hemochromatosis in an HFE His63Asp (187C->G) heterozygote.Semantic proximity Read ↗

Detecting the C282Y and H63D mutations of the HFE gene by Holliday Junction-based allele-specific genotyping methods.Semantic proximity Read ↗

A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese originSemantic proximity Read ↗

Incidence of a clinically relevant H63D syndrome in carriers of a homozygous mutation of HFE gene H63DSemantic proximity Read ↗

Haplotype analysis of the HFE gene: implications for the origins of hemochromatosis related mutations.Semantic proximity Read ↗

I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?Semantic proximity Read ↗

HJV mutations causing hemochromatosis: variable phenotypic expression in a pair of twins.Semantic proximity Read ↗

New mutation in the hMSH2 gene in a Spanish Muir-Torre syndrome.Semantic proximity Read ↗

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