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 se...

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Detalhes bibliográficos

Principais autores:	Bruno Maranhao, Pooja Biswas, Alexander D H Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S Amer Riazuddin, J Fielding Hejtmancik, Radha Ayyagari
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Public Library of Science (PLoS) 2015-01-01
coleção:	PLoS ONE
Acesso em linha:	http://europepmc.org/articles/PMC4564165?pdf=render
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