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

Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.

Internal medicine (Tokyo, Japan) - 1 Jun 2001

Imanishi H, Liu W, Cheng J, Ikeda N, Amuro Y, Hada T

Abstract excerpt

Most patients with hereditary hemochromatosis are homozygous for C282Y in the HFE gene in populations of Celtic origin, but the genetic cause of this disease is unknown in Japan because of its rarity. A 48-year-old Japanese patient was recently diagnosed with idiopathic hemochromatosis. Analysis of the entire coding region of the patient's HFE by RT-PCR showed a heterozygous nucleotide substitution at nucleotide...

Read the complete abstract on PubMed

Topics

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

Share to Alanine
Share to Hemochromatosis
Share to Hemochromatosis Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Histocompatibility Antigens Class I

Share to HLA Antigens

Share to Membrane Proteins

Share to Valine

Source

Identifiers

PMID: 11446670
DOI: 10.2169/internalmedicine.40.479

Genes

HFE

Variants

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

Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.PMID 11446670Read ↗

Hemochromatosis with HFE gene mutation in a Japanese patient.Semantic proximity Read ↗

HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population.Semantic proximity Read ↗

Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosisSemantic proximity Read ↗

HFE-Related Hemochromatosis in a Chinese Patient: The First Reported CaseSemantic proximity Read ↗

Celtic origin of the C282Y mutation of hemochromatosis.Semantic proximity Read ↗

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

Hereditary hemochromatosis not associated with common HFE gene mutation in Japanese siblings.Semantic proximity Read ↗

Genetic background of primary iron overload syndromes in Japan.Semantic proximity Read ↗

The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.Semantic proximity Read ↗

Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.Semantic proximity Read ↗

Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings.Semantic proximity Read ↗

Celtic origin of the C282Y mutation of hemochromatosis.Semantic proximity Read ↗

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