Eight previously unidentified mutations found in the <it>OA1 </it>ocular albinism gene

Eight previously unidentified mutations found in the <it>OA1 </it>ocular albinism gene

<p>Abstract</p> <p>Background</p> <p>Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin...

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Main Authors: Dufier Jean-Louis, Kaplan Josseline, Mezer Eedy, Said Edith, Lacombe Didier, Sutherland Joanne, Levin Alex V, Héon Elise, Bonneau Dominique, Munier Francis L, Schorderet Daniel F, Dollfus Hélène, Marchant Dominique, Jaliffa Carolina, Vêtu Christelle, Roche Olivier, Mayeur Hélène, Marsac Cécile, Menasche Maurice, Abitbol Marc
Format: Article
Language:English
Published: BMC 2006-04-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/7/41

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http://www.biomedcentral.com/1471-2350/7/41

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