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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Detalles Bibliográficos
Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468396/
https://www.ncbi.nlm.nih.gov/pubmed/16646960
http://dx.doi.org/10.1186/1471-2350-7-41

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1468396/
https://www.ncbi.nlm.nih.gov/pubmed/16646960
http://dx.doi.org/10.1186/1471-2350-7-41

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