A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

Purpose: To identify the genetic basis for retinitis pigmentosa (RP) in a cohort of Jewish patients from Caucasia. Methods: Patients underwent a detailed ophthalmic evaluation, including funduscopic examination, visual field testing, optical coherence tomography (OCT), and electrophysiological te...

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Bibliographic Details
Main Authors: Yasmin Tatour, Jonathan Tamaiev, Shamaly Shamaly, Roberto Colombo, Ephrat Bril, Tom Rabinowitz, Alona Yaakobi, Eedy Mezer, Rina Leibu, Beatrice Tiosano, Noam Shomron, Itay Chowers, Eyal Banin, Dror Sharon, Tamar Ben-Yosef
Format: Article
Language:English
Published: Molecular Vision 2019-02-01
Series:Molecular Vision
Subjects:
retinitis pigmentosa
whole exome sequencing
PDE6B
Online Access:http://www.molvis.org/molvis/v25/155/

Internet

http://www.molvis.org/molvis/v25/155/

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