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

• Główni autorzy: 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)
• Format: Książka
• Wydane: BMC, 2006-04-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...