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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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.
Format: Artigo
Jezik:Inglês
Izdano: Association for Research in Vision and Ophthalmology, Inc. 2011
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Articles
Online dostop: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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