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

• 主要な著者: Dufier Jean-Louis (著者), Kaplan Josseline (著者), Mezer Eedy (著者), Said Edith (著者), Lacombe Didier (著者), Sutherland Joanne (著者), Levin Alex V (著者), Héon Elise (著者), Bonneau Dominique (著者), Munier Francis L (著者), Schorderet Daniel F (著者), Dollfus Hélène (著者), Marchant Dominique (著者), Jaliffa Carolina (著者), Vêtu Christelle (著者), Roche Olivier (著者), Mayeur Hélène (著者), Marsac Cécile (著者), Menasche Maurice (著者), Abitbol Marc (著者)
• フォーマット: 図書
• 出版事項: BMC, 2006-04-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...