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Article

Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.

Clinical chemistry and laboratory medicine - 1 Oct 2011

Santos Paulo Caleb Junior Lima, Soares Renata Alonso Gadi, Krieger Jose Eduardo, Guerra-Shinohara Elvira Maria, Pereira Alexandre Costa

Abstract excerpt

BACKGROUND: The genotyping of HFE p.C282Y and p.H63D mutations is one of the most requested molecular analyses in the laboratorial routine. In this scenario, the main aim was to develop a genotyping assay that has advantages compared to other methods. METHODS: Genotypes for the HFE p.C282Y (c.G845A; rs1800562) and p.H63D (c.C187G, rs1799945) mutations were assessed by polymerase chain reaction (PCR) followed by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21679129
DOI: 10.1515/CCLM.2011.654

Genes

HFE

Variants

rs1799945
rs1800562

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Research trail→

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Genotyping of the hemochromatosis HFE p.H63D and p.C282Y mutations by high-resolution melting with the Rotor-Gene 6000® instrument.PMID 21679129Read ↗

High resolution melting analysis to genotype the most common variants in the HFE gene.Semantic proximity Read ↗

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