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

5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals.

Genetic testing - 1 Jan 2000

Thorstensen K, Kvitland M, Asberg A, Hveem K

Abstract excerpt

In a previous hemochromatosis screening study including a total of 65,238 individuals, 566 persons were genotyped for the C282Y and the H63D mutations. Of these, a total of 433 samples (298 homozygous C282Y and 135 homozygous wild type) were reanalyzed to investigate if the potential presence of the newly described 5569G/A polymorphism had confounded the genotyping results for the C282Y mutation. Genotyping with...

Read the complete abstract on PubMed

Topics

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

Share to DNA Primers
Share to Genetic Testing
Share to Hemochromatosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemochromatosis Protein

Share to Histocompatibility Antigens Class I

Share to HLA Antigens

Share to Homozygote

Share to Point Mutation

Source

Identifiers

PMID: 10953954
DOI: 10.1089/10906570050114858

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

5569G/A polymorphism of the HFE gene: no implications for C282Y genotyping in a hemochromatosis screening study of 65,238 individuals.PMID 10953954Read ↗

Detection of C282Y and H63D in the HFE gene.Semantic proximity Read ↗

HFE mutations in the elderly.Semantic proximity Read ↗

No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: the Leiden 85-plus study.Semantic proximity Read ↗

Polymorphisms in the HFE gene.Semantic proximity Read ↗

HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.Semantic proximity Read ↗

Polymorphisms in the 5' flanking region of the HFE gene: linkage disequilibrium and relationship to iron homeostasis.Semantic proximity Read ↗

Detection of the C282Y and H63D polymorphisms associated with hereditary hemochromatosis using the ABI 7500 fast real time PCR platform.Semantic proximity Read ↗

HFE mutations in patients with hereditary haemochromatosis in Sweden.Semantic proximity Read ↗

Genotyping as a diagnostic aid in genetic haemochromatosis.Semantic proximity Read ↗

Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis.Semantic proximity Read ↗

The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population.Semantic proximity Read ↗

Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls.Semantic proximity Read ↗

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