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

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 mice are lethal in the embryonic period, suggesting that possible retin...

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書誌詳細

出版年:	Frontiers in Genetics
主要な著者:	Yan Ma, Xun Wang, Nadav Shoshany, Xiaodong Jiao, Adrian Lee, Gregory Ku, Emma L. Baple, James Fasham, Raheela Nadeem, Muhammad Asif Naeem, Sheikh Riazuddin, S. Amer Riazuddin, Andrew H. Crosby, J. Fielding Hejtmancik
フォーマット:	論文
言語:	英語
出版事項:	Frontiers Media S.A. 2022-03-01
主題:	retinitis pigmenstosa CLCC1 haplotype analysis mutation age estimate Pakistan founder mutation
オンライン･アクセス:	https://www.frontiersin.org/articles/10.3389/fgene.2022.804924/full