Eight previously unidentified mutations found in the OA1 ocular albinism gene

BACKGROUND: 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 and eye cells, and misrouting of the optical tracts. Th...

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Hauptverfasser: Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, Bonneau, Dominique, Munier, Francis L, Schorderet, Daniel F, Levin, Alex V, Héon, Elise, Sutherland, Joanne, Lacombe, Didier, Said, Edith, Mezer, Eedy, Kaplan, Josseline, Dufier, Jean-Louis, Marsac, Cécile, Menasche, Maurice, Abitbol, Marc
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2006
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1468396/
https://ncbi.nlm.nih.gov/pubmed/16646960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-7-41
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