Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa

We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E altera...

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Detalles Bibliográficos
Autores principales: Li, Lin, Jiao, Xiaodong, D’Atri, Ilaria, Ono, Fumihito, Nelson, Ralph, Chan, Chi-Chao, Nakaya, Naoki, Ma, Zhiwei, Ma, Yan, Cai, Xiaoying, Zhang, Longhua, Lin, Siying, Hameed, Abdul, Chioza, Barry A., Hardy, Holly, Arno, Gavin, Hull, Sarah, Khan, Muhammad Imran, Fasham, James, Harlalka, Gaurav V., Michaelides, Michel, Moore, Anthony T., Coban Akdemir, Zeynep Hande, Jhangiani, Shalini, Lupski, James R., Cremers, Frans P. M., Qamar, Raheel, Salman, Ahmed, Chilton, John, Self, Jay, Ayyagari, Radha, Kabir, Firoz, Naeem, Muhammad Asif, Ali, Muhammad, Akram, Javed, Sieving, Paul A., Riazuddin, Sheikh, Baple, Emma L., Riazuddin, S. Amer, Crosby, Andrew H., Hejtmancik, J. Fielding
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133373/
https://www.ncbi.nlm.nih.gov/pubmed/30157172
http://dx.doi.org/10.1371/journal.pgen.1007504

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