A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa

X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for 10%–20% and 70%–90% of genetically identifiable disease, respectively. However, mutations in the resp...

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Hauptverfasser: Breuer, Debra K., Yashar, Beverly M., Filippova, Elena, Hiriyanna, Suja, Lyons, Robert H., Mears, Alan J., Asaye, Bersabell, Acar, Ceren, Vervoort, Raf, Wright, Alan F., Musarella, Maria A., Wheeler, Patricia, MacDonald, Ian, Iannaccone, Alessandro, Birch, David, Hoffman, Dennis R., Fishman, Gerald A., Heckenlively, John R., Jacobson, Samuel G., Sieving, Paul A., Swaroop, Anand
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2002
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC379141/
https://ncbi.nlm.nih.gov/pubmed/11992260
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