Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Author:

Li Lin1,Chen Yabin2,Jiao Xiaodong2,Jin Chongfei3,Jiang Dan2,Tanwar Mukesh4,Ma Zhiwei2,Huang Li5,Ma Xiaoyin6,Sun Wenmin5,Chen Jianjun7,Ma Yan2,M'hamdi Oussama2,Govindarajan Gowthaman2,Cabrera Patricia E.2,Li Jiali5,Gupta Nikhil2,Naeem Muhammad Asif8,Khan Shaheen N.8,Riazuddin Sheikh9,Akram Javed10,Ayyagari Radha11,Sieving Paul A.12,Riazuddin S. Amer13,Hejtmancik J. Fielding2

Affiliation:

1. Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China 2Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States

2. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States

3. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States 3Department of Medicine, Brookdale University Hospital and Medical Center, New York, New York, United States

4. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States 4Department of Genetics, Maharshi Dayanand University Rohtak, Haryana, India

5. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States 5State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, Guangdong, China

6. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States 6Laboratory of Developmental Cell Biology and Disease, School of Ophthalmology and Optometry and Eye Hospital, Wenzhou Medical University, Wenzhou, China

7. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States 7Department of Ophthalmology, Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji University School of Medicine, Shanghai, China

8. National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan

9. National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan 9Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan 10National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan

10. Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan 10National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan

11. Shiley Eye Institute, University of California-San Diego, La Jolla, California, United States

12. National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States

13. The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States 14McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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