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

Novel method for molecular detection of the two common hereditary hemochromatosis mutations.

Genetic testing - 1 Jan 2000

Kaler S G, Devaney J M, Pettit E L, Kirshman R, Marino M A

Abstract excerpt

We describe a novel molecular screening technique for hereditary hemochromatosis through which HFE genotypes at codon positions 282 and 63 are simultaneously detected. The technique combines multiplex PCR and denaturing high-performance liquid chromatography (DHPLC) and allows automated high-throughput analysis. We used this method to genotype 43 previously characterized anonymous DNA specimens in blinded fashion...

Read the complete abstract on PubMed

Topics

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

Share to Chromatography, High Pressure Liquid
Share to Codon
Share to DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Hemochromatosis

Share to Hemochromatosis Protein

Share to Histocompatibility Antigens Class I

Share to HLA Antigens

Source

Identifiers

PMID: 10953951
DOI: 10.1089/10906570050114821

Genes

HFE

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

Novel method for molecular detection of the two common hereditary hemochromatosis mutations.PMID 10953951Read ↗

Simple multiplex PCR for the simultaneous detection of the C282Y and H63D hemochromatosis (HFE) gene mutations.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 ↗

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

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

High-performance liquid chromatography multiplex detection of two single nucleotide mutations associated with hereditary hemochromatosis.Semantic proximity Read ↗

Simultaneous detection of HFE C282Y, H63D and S65C mutations associated with type 1 haemochromatosis using a multiplex luminex bead assay.Semantic proximity Read ↗

Fluorescent multicolor multiplex homogeneous assay for the simultaneous analysis of the two most common hemochromatosis mutations.Semantic proximity Read ↗

Improved real-time detection of the H63D and S65C mutations associated with hereditary hemochromatosis using a SimpleProbe assay format.Semantic proximity Read ↗

A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH).Semantic proximity Read ↗

Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes).Semantic proximity Read ↗

Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP: detection of a new polymorphic mutation.Semantic proximity Read ↗

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

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