Article
CRB1 mutation spectrum in inherited retinal dystrophies.
Human mutation - 1 Nov 2004
den Hollander Anneke I, Davis Jason, van der Velde-Visser Saskia D, Zonneveld Marijke N, Pierrottet Chiara O, Koenekoop Robert K, Kellner Ulrich, van den Born L Ingeborgh, Heckenlively John R, Hoyng Carel B, Handford Penny A, Roepman Ronald, Cremers Frans P M
Abstract excerpt
Mutations in the Crumbs homologue 1 (CRB1) gene have been reported in patients with a variety of autosomal recessive retinal dystrophies, including retinitis pigmentosa (RP) with preserved paraarteriolar retinal pigment epithelium (PPRPE), RP with Coats-like exudative vasculopathy, early onset RP without PPRPE, and Leber congenital amaurosis (LCA). We extended our investigations of CRB1 in these retinal...
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