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

Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.

Journal of medical genetics - 1 Sept 1997

Rhodes D A, Raha-Chowdhury R, Cox T M, Trowsdale J

Abstract excerpt

A candidate gene for hereditary haemochromatosis, HLA-H, has recently been presented. Two missense mutations in the HLA-H gene sequence are predicted to account for nearly 90% of all cases of the disease. The aim of this study was to correlate the presence of these missense mutations with the expressivity of the disease, as assessed by standard biochemical evaluation of serum iron parameters. Detection of the...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Aged
Share to Aged, 80 and over

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HLA Antigens

Share to Homozygote

Share to Membrane Proteins

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 9321765
DOI: 10.1136/jmg.34.9.761
PMCID: PMC1051063

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis.PMID 9321765Read ↗

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.Semantic proximity Read ↗

Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis.Semantic proximity Read ↗

Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis.Semantic proximity Read ↗

Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation.Semantic proximity Read ↗

Rapid diagnosis of asymptomatic hereditary haemochromatosis by detection of the Cys282Tyr mutation in the HLA-H gene.Semantic proximity Read ↗

Phenotype-genotype correlation in haemochromatosis subjects.Semantic proximity Read ↗

Global prevalence of putative haemochromatosis mutations.Semantic proximity Read ↗

Hemochromatosis and "HLA-H": definite!Semantic proximity Read ↗

A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.Semantic proximity Read ↗

Relationship between genotype, assessed by HLA typing, and phenotypic expression of iron status markers in families of 29 probands with hereditary haemochromatosis.Semantic proximity Read ↗

Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany.Semantic proximity Read ↗

A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload.Semantic proximity Read ↗

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