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Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene |
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| Authors: | MUZAMMIL AHMAD KHAN VERENA RUPP MUHAMMAD AYAZ KHAN MUHAMMAD PERVAIZ KHAN MUHAMMAD ANSAR CHRISTIAN WINDPASSINGER |
| Institution: | 1. Gomal Centre of Biochemistry and Biotechnology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa, 29050, Pakistan 2. Institute of Human Genetics, Graz Medical University, Graz, 8010, Austria 3. Department of Food Science and Technology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa, 29050, Pakistan 4. Faculty of Biological Sciences, Department of Biochemistry, Quaid-i-Azam University, Islamabad, 45320, Pakistan |
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