Article
Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
Ophthalmology - 1 May 2018
Kimchi Adva, Khateb Samer, Wen Rong, Guan Ziqiang, Obolensky Alexey, Beryozkin Avigail, Kurtzman Shoshi, Blumenfeld Anat, Pras Eran, Jacobson Samuel G, Ben-Yosef Tamar, Newman Hadas, Sharon Dror, Banin Eyal
Abstract excerpt
PURPOSE: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype-phenotype correlations. DESIGN: Cohort study. PARTICIPANTS: Retinitis pigmentosa patients from 230 families of AJ origin. METHODS: Sanger sequencing was performed to detect specific founder mutations known to be prevalent in the AJ population. Ophthalmologic...
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