Mutations inRPGRandRP2Account for 15% of Males with Simplex Retinal Degenerative Disease

Author:

Branham Kari1,Othman Mohammad1,Brumm Matthew1,Karoukis Athanasios J.1,Atmaca-Sonmez Pelin1,Yashar Beverly M.2,Schwartz Sharon B.3,Stover Niamh B.4,Trzupek Karmen4,Wheaton Dianna5,Jennings Barbara6,Ciccarelli Maria Laura7,Jayasundera K. Thiran1,Lewis Richard A.8,Birch David5,Bennett Jean9,Sieving Paul A.10,Andreasson Sten11,Duncan Jacque L.12,Fishman Gerald A.13,Iannaccone Alessandro6,Weleber Richard G.4,Jacobson Samuel G.3,Heckenlively John R.1,Swaroop Anand14

Affiliation:

1. From the Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan;

2. Department of Human Genetics, University of Michigan, Ann Arbor, Michigan;

3. Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania;

4. Casey Eye Institute, Oregon Health & Science University, Portland, Oregon;

5. Retina Foundation of the Southwest, Dallas, Texas;

6. Hamilton Eye Institute, University of Tennessee Health Science Center, Memphis, Tennessee;

7. Division of Ophthalmology, Israelitic Hospital, Rome, Italy;

8. Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas;

9. Department of Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania;

10. From the Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan;10National Eye Institute, National Institutes of Health, Bethesda, Maryland;

11. Department of Ophthalmology, University of Lund Medical School, Lund, Sweden;

12. Department of Ophthalmology, University of California-San Francisco, San Francisco, California; and the

13. Department of Ophthalmology, University of Illinois, Chicago, Illinois.

14. From the Department of Ophthalmology and Visual Sciences, University of Michigan, Kellogg Eye Center, Ann Arbor, Michigan;2Department of Human Genetics, University of Michigan, Ann Arbor, Michigan;10National Eye Institute, National Institutes of Health, B

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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