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Article

Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis.

Gene - 1 Oct 2012

Nielsen Peter B, Petersen Maja S, Ystaas Viviana, Andersen Rolf V, Hansen Karin M, Blaabjerg Vibeke, Refstrup Mette

Abstract excerpt

Classical hereditary hemochromatosis involves the HFE-gene and diagnostic analysis of the DNA variants HFE p.C282Y (c.845G>A; rs1800562) and HFE p.H63D (c.187C>G; rs1799945). The affected protein alters the iron homeostasis resulting in iron overload in various tissues. The aim of this study was to validate the TaqMan-based Sample-to-SNP protocol for the analysis of the HFE-p.C282Y and p.H63D variants with regard...

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Source

Identifiers

PMID: 22735619
DOI: 10.1016/j.gene.2012.06.020

Genes

HFE
GSTP1
PCSK9

Variants

rs1695

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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