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Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

Hollander, Anneke I. Den,
Heckenlively, John R.,
Van den Born, L. Ingeborgh,
De Kok, Yvette J. M.,
Van der Velde-Visser, Saskia D.,
Kellner, Ulrich,
Jurklies, Bernhard,
Van Schooneveld, Mary J.,
Blankenagel, Anita,
Rohrschneider, Klaus,
Wissinger, Bernd,
Cruysberg, Johan R. M.,
Deutman, August F.,
Brunner, Han G.,
Apfelstedt-Sylla, Eckart,
Hoyng, Carel B.,
Cremers, Frans P. M.

Abstract

Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment epithelium (PPRPE) and by severe loss of vision at age

Publication details

Download	http://www.pubmedcentral.gov/articlerender.fcgi?artid=1226034
Publisher	The American Society of Human Genetics
Repository	PubMed Central (PMC3 - NLM DTD) (United States)
Keywords	Report
Type	Text
Language	Englisch