Article
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Nature genetics - 1 Oct 1999
den Hollander A I, ten Brink J B, de Kok Y J, van Soest S, van den Born L I, van Driel M A, van de Pol D J, Payne A M, Bhattacharya S S, Kellner U, Hoyng C B, Westerveld A, Brunner H G, Bleeker-Wagemakers E M, Deutman A F, Heckenlively J R, Cremers F P, Bergen A A
Abstract excerpt
Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide. Affected individuals suffer from a progressive degeneration of the photoreceptors, eventually resulting in severe visual impairment. To isolate candidate genes for chorioretinal diseases, we cloned cDNAs specifically or preferentially expressed in the human...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.