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

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...

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Detalhes bibliográficos
Publicado no:Invest Ophthalmol Vis Sci
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: The Association for Research in Vision and Ophthalmology 2017
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5397137/
https://ncbi.nlm.nih.gov/pubmed/28418496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.17-21424
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