Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing

PURPOSE: To define the molecular basis of retinal degeneration in consanguineous Pakistani pedigrees with early onset retinal degeneration. METHODS: A cohort of 277 individuals representing 26 pedigrees from the Punjab province of Pakistan was analyzed. Exomes were captured with commercial kits and...

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Detalles Bibliográficos
Autores principales: Maranhao, Bruno, Biswas, Pooja, Gottsch, Alexander D. H., Navani, Mili, Naeem, Muhammad Asif, Suk, John, Chu, Justin, Khan, Sheen N., Poleman, Rachel, Akram, Javed, Riazuddin, Sheikh, Lee, Pauline, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Ayyagari, Radha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564165/
https://www.ncbi.nlm.nih.gov/pubmed/26352687
http://dx.doi.org/10.1371/journal.pone.0136561

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564165/
https://www.ncbi.nlm.nih.gov/pubmed/26352687
http://dx.doi.org/10.1371/journal.pone.0136561

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