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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Dades bibliogràfiques
Publicat a:Invest Ophthalmol Vis Sci
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2017
Matèries:
Genetics
Accés en línia: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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