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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محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: The American Society of Human Genetics 2002
الموضوعات:
Articles
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC379141/
https://ncbi.nlm.nih.gov/pubmed/11992260
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