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

Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.

Clinical chemistry and laboratory medicine - 1 Dec 2000

Klingler K R, Zech D, Wielckens K

Abstract excerpt

Hereditary haemochromatosis (HH) is one of the most common inherited diseases among Caucasians. Two mutations in the HFE gene have been implicated in HH: 80 to 90% of the patients with HH are homozygous for the point mutation CYS282Tyr, while the majority of the remaining patients displays either...

Read the complete abstract on PubMed

Topics

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

Share to Aspartic Acid
Share to Cysteine
Share to Hemochromatosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemochromatosis Protein

Share to Histidine

Share to Histocompatibility Antigens Class I

Share to HLA Antigens

Share to Tyrosine

Source

Identifiers

PMID: 11205685
DOI: 10.1515/CCLM.2000.193

Genes

HFE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11205685-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haemochromatosis: automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp.PMID 11205685Read ↗

Hemochromatosis: advances in molecular genetics and clinical diagnosis.Semantic proximity Read ↗

Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR.Semantic proximity Read ↗

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.Semantic proximity Read ↗

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)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 ↗

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.Semantic proximity Read ↗

Rapid single-tube screening of the C282Y hemochromatosis mutation by real-time multiplex allele-specific PCR without fluorescent probes.Semantic proximity Read ↗

Hereditary hemochromatosis since discovery of the HFE gene.Semantic proximity Read ↗

Rapid detection of genetic mutations associated with haemochromatosis.Semantic proximity Read ↗

Evaluation of a screening program for iron overload and HFE mutations in 50,493 blood donors.Semantic proximity Read ↗

Improved detection of hereditary haemochromatosis.Semantic proximity Read ↗

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

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