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Mutations in the X-Linked Retinitis Pigmentosa Genes RPGR and RP2 Found in 8.5% of Families with a Provisional Diagnosis of Autosomal Dominant Retinitis Pigmentosa

PURPOSE. We determined the fraction of families in a well-characterized cohort with a provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis pigmentosa 2 (RP2) gene...

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Detalhes bibliográficos
Main Authors: Churchill, Jennifer D., Bowne, Sara J., Sullivan, Lori S., Lewis, Richard Alan, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Daiger, Stephen P.
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3597192/
https://ncbi.nlm.nih.gov/pubmed/23372056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.12-11541
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