Browsing 2022 Eastern publications by Subject "Pakistan"

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CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago

Ma, Y.; Wang, X.; Shoshany, N.; Jiao, X.; Lee, A.; Ku, G.; Baple, E. L.; Fasham, J.; Nadeem, R.; Naeem, M. A.; Riazuddin, S.; Riazuddin, S. A.; Crosby, A. H.; Hejtmancik, J. F. (Frontiers Media, 2022-04-09)

Background: A CLCC1 c. 75C > A (p.D25E) mutation has been associated with autosomal recessive pigmentosa in patients in and from Pakistan. CLCC1 is ubiquitously expressed, and knockout models of this gene in zebrafish and ...