Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria

Abstract

Porphyrias are disorders caused by the genetic defects of enzymes of the heme pathway and are characterized by such a wide genetic heterogeneity that even the molecular analysis is not always decisive for a correct diagnosis. In the past few years, deletion with a size range of few kilobase pairs have been reported. These peculiar mutations, missed by both… (More)
DOI: 10.1038/jhg.2009.67

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