Article

Novel missense mutation E585K in retinitis pigmentosa leads to compromised <i>RPGR</i> splicing diversity

2020-05-25

Abstract excerpt

Mutations in the retinitis pigmentosa GTPase regulator ( RPGR ) gene, are the major cause of X-linked retinitis pigmentosa (RP). Herein we used whole-exome sequencing to screen possible novel RPGR mutations in RP patients, and identified a novel missense mutation E585K in a patient with early onset but slow disease progression, and a frameshift deletion E998Gfs*78 in a patient with RP sine pigmento and high myop...

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Literature Corpus work: 8acc1a4c-45ba-5fff-a8ff-e40b796bea21
DOI: 10.1101/2020.05.22.109884

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