Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2

Author:

Conley Shannon M.1,McClard Cynthia K.23,Mwoyosvi Maggie L.1,Alkadhem Niyaf2,Radojevic Bojana2,Klein Martin4,Birch David4,Ellis Ashley3,Icks Sonny W.3,Guddanti Tejesh5,Bennett Lea D.23

Affiliation:

1. University of Oklahoma Health Sciences Center, Department of Cell Biology, Oklahoma City, Oklahoma, United States

2. University of Oklahoma Health Sciences Center, Department of Ophthalmology, Oklahoma City, Oklahoma, United States

3. Dean McGee Eye Institute, Oklahoma City, Oklahoma City, Oklahoma, United States

4. Retina Foundation of the Southwest, Dallas, Texas, United States

5. University of Oklahoma Health Sciences Center, College of Medicine, Oklahoma City, Oklahoma, United States

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Reference62 articles.

1. Development and degeneration of retina in rds mutant mice: electron microscopy;Jansen;J Compar Neurol,1984

2. Peripherin. A rim-specific membrane protein of rod outer segment discs;Molday;Invest Ophthalmol Vis Sci,1987

3. Molecular cloning, membrane topology, and localization of bovine rom-1 in rod and cone photoreceptor cells;Moritz;Invest Ophthalmol Vis Sci,1996

4. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families;Jones;Mol Vis,2017

5. The Function of Oligomerization-Incompetent RDS in Rods;Chakraborty;Adv Exp Med Biol,2010

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