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

• Main Authors: Dufier Jean-Louis (Author), Kaplan Josseline (Author), Mezer Eedy (Author), Said Edith (Author), Lacombe Didier (Author), Sutherland Joanne (Author), Levin Alex V (Author), Héon Elise (Author), Bonneau Dominique (Author), Munier Francis L (Author), Schorderet Daniel F (Author), Dollfus Hélène (Author), Marchant Dominique (Author), Jaliffa Carolina (Author), Vêtu Christelle (Author), Roche Olivier (Author), Mayeur Hélène (Author), Marsac Cécile (Author), Menasche Maurice (Author), Abitbol Marc (Author)
• Format: Book
• Published: BMC, 2006-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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...