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Article

Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population.

Clinical genetics - 1 Apr 2004

Kotze M J, de Villiers J N P, Bouwens C S H, Warnich L, Zaahl M G, van der Merwe S, Oberkanins C

Abstract excerpt

A recently developed strip-assay for hemochromatosis provides a rapid method for simultaneous detection of multiple mutations, which among others includes the HFE gene mutations V53M, V59M, H63D, H63H, S65C, Q127H, E168Q, and C282Y, previously detected in the general South African population using gel-based mutation-screening methods. The objective of the study was to determine the frequency of the relatively...

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Source

Identifiers

PMID: 15025725
DOI: 10.1111/j.1399-0004.2004.00222.x

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.

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