Abstract:23Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene, are the major cause of 24 X-linked retinitis pigmentosa (RP). Herein we used whole-exome sequencing to screen 25 possible novel RPGR mutations in RP patients, and identified a novel missense mutation 26 E585K in a patient with early onset but slow disease progression, and a frameshift deletion 27 E998Gfs*78 in a patient with RP sine pigmento and high myopia. Intriguingly, bioinformatic 28 analysis indicated that E585K probably affected RPGR … Show more
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