Article
Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2015
Venturini Giulia, Koskiniemi-Kuendig Hanna, Harper Shyana, Berson Eliot L, Rivolta Carlo
Abstract excerpt
PURPOSE: Retinitis pigmentosa is a Mendelian disease with a very elevated genetic heterogeneity. Most mutations are responsible for less than 1% of cases, making molecular diagnosis a multigene screening procedure. In this study, we assessed whether direct testing of specific alleles could be a valuable screening approach in cases characterized by prevalent founder mutations. METHODS: We screened 275 North...
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