Confirmation of the Role ofDHX38in the Etiology of Early-Onset Retinitis Pigmentosa
Investigative Ophthalmology & Visual Science2018Vol. 59(11), pp. 4552–4552
Citations Over Time
Zahid Latif, Imen Chakchouk, Isabelle Schrauwen, Kwanghyuk Lee, Regie Lyn P. Santos‐Cortez, Izoduwa Abbe, Anushree Acharya, Afeefa Jarral, Ali Imran, Ehsan Ullah, Muhammad Nasim Khan, Ghazanfar Ali, Tufail Hussain Tahir, Michael J. Bamshad, Deborah A. Nickerson, Wasim Ahmad, Muhammad Ansar, Suzanne M. Leal
Abstract
We identified a second deleterious DHX38 variant that segregates with arRP in two families, providing additional evidence that DHX38 is involved in RP etiology. DHX38 encodes for pre-mRNA splicing factor PRP16, which is important in catalyzing pre-mRNA splicing.
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