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

Identification of a novel mutation (C321X) in HJV.

Blood - 1 Oct 2004

Huang Franklin W, Rubio-Aliaga Isabel, Kushner James P, Andrews Nancy C, Fleming Mark D

Abstract excerpt

Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders.

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Codon, Nonsense
Share to Family Health

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GPI-Linked Proteins

Share to Hemochromatosis

Share to Hemochromatosis Protein

Source

Identifiers

PMID: 15138164
DOI: 10.1182/blood-2004-01-0400

Genes

HJV

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel mutation (C321X) in HJV.PMID 15138164Read ↗

Hemojuvelin (<i>HJV</i>) mutations in persons of European, African‐American and Asian ancestry with adult onset haemochromatosisSemantic proximity Read ↗

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

Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.Semantic proximity Read ↗

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

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

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

A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis.Semantic proximity Read ↗

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

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

Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl.Semantic proximity Read ↗

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

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