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Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family

PURPOSE: To ascertain the potential pathogenicity of a retinitis pigmentosa (RP)-causing RHO F45L allele in a family affected by congenital achromatopsia (ACHM). METHODS: Case series/observational study that included two patients with ACHM and 24 extended family members. Molecular genetic analysis w...

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מידע ביבליוגרפי
Main Authors: Vincent, Andrea L., Carroll, Joseph, Fishman, Gerald A., Sauer, Alexandra, Sharp, Dianne, Summerfelt, Phyllis, Williams, Vesper, Dubis, Adam M., Kohl, Susanne, Wong, Fulton
פורמט: Artigo
שפה:Inglês
יצא לאור: The Association for Research in Vision and Ophthalmology 2013
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גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3763889/
https://ncbi.nlm.nih.gov/pubmed/24049715
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/tvst.2.2.4
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