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Article

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

Clinical chemistry and laboratory medicine - 1 Jan 2008

Klaassen Corné H W, van Aarssen Yvonne A W G, van der Stappen Jos W J

Abstract excerpt

BACKGROUND: Genetic predisposition to hemochromatosis involves several different point mutations in the HFE gene. Routine testing for two such mutations (H63D and S65C) using real-time genotyping deserves special care, as these mutations are in close proximity (6 bp) of each other. METHODS: A novel assay was designed for these two mutations based on a SimpleProbe assay format that allows for more flexibility in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Histocompatibility Antigens Class I

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Source

Identifiers

PMID: 18624620
DOI: 10.1515/CCLM.2008.197

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.

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