Article
Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.
Molecular vision - 24 Nov 2004
Kumar Arun, Babu Mohan, Kimberling William J, Venkatesh Conjeevaram P
Abstract excerpt
PURPOSE: Usher syndrome (USH) is a rare autosomal recessive disorder characterized by deafness and retinitis pigmentosa. The purpose of this study was to determine the genetic cause of USH in a four generation Indian family. METHODS: Peripheral blood samples were collected from individuals for genomic DNA isolation. To determine the linkage of this family to known USH loci, microsatellite markers were selected...
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