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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Association for Research in Vision and Ophthalmology, Inc. 2011
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Accesso online: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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