Article
Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.
Metallomics : integrated biometal science - 1 Jul 2012
Fuchs Sabine A, Harakalova Magdalena, van Haaften Gijs, van Hasselt Peter M, Cuppen Edwin, Houwen Roderick H J
Abstract excerpt
The genetic defect in a number of rare disorders of metal metabolism remains elusive. The limited number of patients with these disorders impedes the identification of the causative gene through positional cloning, which requires numerous families with multiple affected individuals. However, with next-generation sequencing all coding DNA (exomes) or whole genomes of patients can be sequenced to identify genes...
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