Article
Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Investigative ophthalmology & visual science - 16 Dec 2014
Lazar Csilla H, Mutsuddi Mousumi, Kimchi Adva, Zelinger Lina, Mizrahi-Meissonnier Liliana, Marks-Ohana Devorah, Boleda Alexis, Ratnapriya Rinki, Sharon Dror, Swaroop Anand, Banin Eyal
Abstract excerpt
PURPOSE: The Israeli population has a unique genetic make-up, with a high prevalence of consanguineous marriages and autosomal recessive diseases. In rod-dominated phenotypes, disease-causing genes and mutations that differ from those identified in other populations often are incurred. We used whole exome sequencing (WES) to identify genetic defects in Israeli families with cone-dominated retinal phenotypes....
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