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    • Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families 

      Dawood, M.; Lin, S.; Din, T. U.; Shah, I. U.; Khan, N.; Jan, A.; Marwan, M.; Sultan, K.; Nowshid, M.; Tahir, R.; Ahmed, A. N.; Yasin, M.; Baple, E. L.; Crosby, A. H.; Saleha, S. (International Journal of Ophthalmology Press, 2021-12-21)
      AIM: To investigate the genetic basis of autosomal recessive retinitis pigmentosa (arRP) in two consanguineous/ endogamous Pakistani families. METHODS: Whole exome sequencing (WES) was performed on genomic DNA samples of ...