Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families
Investigative Ophthalmology & Visual Science2017Vol. 58(4), pp. 2218–2218
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Lin Li, Yabin Chen, Xiaodong Jiao, Chongfei Jin, Dan Jiang, Mukesh Tanwar, Zhiwei Ma, Li Huang, Xiaoyin Ma, Wenmin Sun, Jianjun Chen, Yan Ma, Oussama M’Hamdi, Gowthaman Govindarajan, Patricia E. Cabrera, Jiali Li, Nikhil Gupta, Muhammad Asif Naeem, Shaheen N. Khan, Sheikh Riazuddin, Javed Akram, Radha Ayyagari, Paul A. Sieving, Sheikh Riazuddin, J. Fielding Hejtmancik
Abstract
These results suggest the involvement of unmapped novel genes in the remaining 27.8% (40/144) of families. In addition, this study demonstrates that homozygosity mapping remains a powerful tool for identifying the genetic defect underlying genetically heterogeneous arRD disorders in consanguineous marriages for both research and clinical applications.
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