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Article

Detection of the C282Y and H63D polymorphisms associated with hereditary hemochromatosis using the ABI 7500 fast real time PCR platform.

Diagnostic molecular pathology : the American journal of surgical pathology, part B - 1 Jun 2007

Tafe Laura J, Belloni Dorothy R, Tsongalis Gregory J

Abstract excerpt

Classic hereditary hemochromatosis is an autosomal recessive disorder characterized by iron overload and sequence variants in the HFE gene. The HFE gene is located at 6p21.3 and contains 2 common single nucleotide polymorphisms (SNPs) C282Y and H63D, which are routinely tested for in the molecular diagnostics laboratory. In this study, we used DNA samples from 59 patients in which clinicians wanted to confirm or...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17525682
DOI: 10.1097/PDM.0b013e3180310489

Genes

HFE

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Detection of the C282Y and H63D polymorphisms associated with hereditary hemochromatosis using the ABI 7500 fast real time PCR platform.PMID 17525682Read ↗

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