Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

doi:10.1167/iovs.17-21424

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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Investigative ophthalmology & visual science - 1 Apr 2017

Li Lin, Chen Yabin, Jiao Xiaodong, Jin Chongfei, Jiang Dan, Tanwar Mukesh, Ma Zhiwei, Huang Li, Ma Xiaoyin, Sun Wenmin, Chen Jianjun, Ma Yan, M'hamdi Oussama, Govindarajan Gowthaman, Cabrera Patricia E, Li Jiali, Gupta Nikhil, Naeem Muhammad Asif, Khan Shaheen N, Riazuddin Sheikh, Akram Javed, Ayyagari Radha, Sieving Paul A, Riazuddin S Amer, Hejtmancik J Fielding

Abstract excerpt

Purpose: The Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD). This study was carried out to delineate the genetic architecture of arRD in the Pakistani population. Methods: The genetic origin of arRD in a total of 144 families selected only for having consanguineous marriages and multiple members affected with arRD...

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PMID: 28418496
DOI: 10.1167/iovs.17-21424
PMCID: PMC5397137

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