Design and Validation of a Colorimetric Test for the Genetic Diagnosis of Hemochromatosis Using [alpha]-Phosphorothioate Nucleotides

Hereditary hemochromatosis is an autosomal recessive disease highly prevalent in Northern Europe. Here we describe the performance of a genetic test for two mutations of the HFE gene (C282Y and H63D). It is based on a solid-phase PCR coupled with an [alpha]-phosphorothioate-mediated primer extension...

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Veröffentlicht in:	Biochemical genetics 2013-08, Vol.51 (7-8), p.635
Hauptverfasser:	Brugère, Jean-françois, Gobron, Stéphane, Baud, Eric, Cailloux, Fabrice
Format:	Artikel
Sprache:	eng
Schlagworte:	Mutation
Online-Zugang:	Volltext
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