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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Gepubliceerd in:Invest Ophthalmol Vis Sci
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Association for Research in Vision and Ophthalmology 2017
Onderwerpen:
Genetics
Online toegang: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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