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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

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 retinitis...

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Detalles Bibliográficos
Autores principales:	Ma, Yan, Wang, Xun, Shoshany, Nadav, Jiao, Xiaodong, Lee, Adrian, Ku, Gregory, Baple, Emma L., Fasham, James, Nadeem, Raheela, Naeem, Muhammad Asif, Riazuddin, Sheikh, Riazuddin, S. Amer, Crosby, Andrew H., Hejtmancik, J. Fielding
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8980549/ https://www.ncbi.nlm.nih.gov/pubmed/35391798 http://dx.doi.org/10.3389/fgene.2022.804924

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