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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2017
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397137/
https://www.ncbi.nlm.nih.gov/pubmed/28418496
http://dx.doi.org/10.1167/iovs.17-21424

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