Article
Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene.
Investigative ophthalmology & visual science - 1 Nov 1998
Bauer S, Fujita R, Buraczynska M, Abrahamson M, Ehinger B, Wu W, Falls T J, Andréasson S, Swaroop A
Abstract excerpt
PURPOSE: To assess the clinical phenotype in a Swedish family with X-linked retinitis pigmentosa (XLRP) resulting from a novel splice defect in the RPGR gene. METHODS: RPGR mutation analysis was performed in one family with XLRP, and several individuals from the family were examined clinically. RESULTS: The causative mutation in the family was demonstrated to be a single base-pair change at the splice donor site...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.