Autosomal Recessive Retinitis Pigmentosa Caused by Mutations in the MAK Gene

PURPOSE. To determine the disease expression in autosomal recessive (ar) retinitis pigmentosa (RP) caused by mutations in the MAK (male germ cell-associated kinase) gene. METHODS. Patients with RP and MAK gene mutations (n = 24; age, 32–77 years at first visit) were studied by ocular examination, pe...

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Detalhes bibliográficos
Main Authors: Stone, Edwin M., Luo, Xunda, Héon, Elise, Lam, Byron L., Weleber, Richard G., Halder, Jennifer A., Affatigato, Louisa M., Goldberg, Jacqueline B., Sumaroka, Alexander, Schwartz, Sharon B., Cideciyan, Artur V., Jacobson, Samuel G.
Formato: Artigo
Idioma:Inglês
Publicado em: Association for Research in Vision and Ophthalmology, Inc. 2011
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3341124/
https://ncbi.nlm.nih.gov/pubmed/22110072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.11-8527
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