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Article

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.

Clinical genetics - 1 Nov 2009

Brakensiek Kai, Fegbeutel Christine, Mälzer Madeleine, Strüber Martin, Kreipe Hans, Stuhrmann Manfred

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Share to Adolescent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Histocompatibility Antigens Class I

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Source

Identifiers

PMID: 19796184
DOI: 10.1111/j.1399-0004.2009.01261.x

Genes

HJV

Provenance

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome.PMID 19796184Read ↗

Homozygous G320V mutation in the HJV gene causing juvenile hereditary haemochromatosis type A. A case report.Semantic proximity Read ↗

Hemochromatosis and hemojuvelin G320V homozygosity in a Hungarian woman.Semantic proximity Read ↗

Identification of a novel mutation (C321X) in HJV.Semantic proximity Read ↗

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

HJV gene mutations in European patients with juvenile hemochromatosisSemantic proximity Read ↗

Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.Semantic proximity Read ↗

The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype.Semantic proximity Read ↗

Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.Semantic proximity Read ↗

Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors.Semantic proximity Read ↗

Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin geneSemantic proximity Read ↗

[Juvenile haemochromatosis caused by a homozygous Gly320Val mutation in the haemojuvelin gene].Semantic proximity Read ↗

Two middle-age-onset hemochromatosis patients with heterozygous mutations in the hemojuvelin gene in a Chinese family.Semantic proximity Read ↗

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