Article
Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 May 2011
Glaus Esther, Schmid Fabian, Da Costa Romain, Berger Wolfgang, Neidhardt John
Abstract excerpt
Retinitis pigmentosa (RP) is a disease that primarily affects the peripheral retina and ultimately causes visual impairment. X-chromosomal forms of RP are frequently caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. We show that the novel splice donor site (SDS) mutation c.1245+3A>T in intron 10 of RPGR cosegregates with RP in a five-generation Caucasian family. The mutation causes...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.