Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease

PURPOSE. To determine the proportion of male patients presenting simplex retinal degenerative disease (RD: retinitis pigmentosa [RP] or cone/cone-rod dystrophy [COD/CORD]) with mutations in the X-linked retinal degeneration genes RPGR and RP2. METHODS. Simplex males were defined as patients with no...

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Autors principals: Branham, Kari, Othman, Mohammad, Brumm, Matthew, Karoukis, Athanasios J., Atmaca-Sonmez, Pelin, Yashar, Beverly M., Schwartz, Sharon B., Stover, Niamh B., Trzupek, Karmen, Wheaton, Dianna, Jennings, Barbara, Ciccarelli, Maria Laura, Jayasundera, K. Thiran, Lewis, Richard A., Birch, David, Bennett, Jean, Sieving, Paul A., Andreasson, Sten, Duncan, Jacque L., Fishman, Gerald A., Iannaccone, Alessandro, Weleber, Richard G., Jacobson, Samuel G., Heckenlively, John R., Swaroop, Anand
Format: Artigo
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2012
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3522443/
https://ncbi.nlm.nih.gov/pubmed/23150612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.12-11025
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