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Article

Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

Human molecular genetics - 1 Aug 1999

de Villiers J N, Hillermann R, Loubser L, Kotze M J

Abstract excerpt

Mutation analysis was performed on DNA samples of 965 individuals from four different ethnic groups in South Africa, in an attempt to determine the spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This population screening approach, utilizing a combined heteroduplex and single-strand conformation polymorphism (HEX-SSCP) method, revealed three previously described and four novel missense...

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Source

Identifiers

PMID: 10401000
DOI: 10.1093/hmg/8.8.1517

Genes

HFE
PPOX

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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