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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Autores principales: Dufier Jean-Louis (Autor), Kaplan Josseline (Autor), Mezer Eedy (Autor), Said Edith (Autor), Lacombe Didier (Autor), Sutherland Joanne (Autor), Levin Alex V (Autor), Héon Elise (Autor), Bonneau Dominique (Autor), Munier Francis L (Autor), Schorderet Daniel F (Autor), Dollfus Hélène (Autor), Marchant Dominique (Autor), Jaliffa Carolina (Autor), Vêtu Christelle (Autor), Roche Olivier (Autor), Mayeur Hélène (Autor), Marsac Cécile (Autor), Menasche Maurice (Autor), Abitbol Marc (Autor)
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Publicado: BMC, 2006-04-01T00:00:00Z.
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