Open AccessMutation- and Tissue-Specific Alterations ofRPGRTranscripts
Author(s) -
F Schmid,
Esther Glaus,
Frans P.M. Cremers,
Barbara KloeckenerGruissem,
Wolfgang Berger,
John Neidhardt
Publication year - 2010
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.09-4031
Subject(s) - exon , splice , rna splicing , alternative splicing , biology , mutation , genetics , gene isoform , gene , phenotype , splice site mutation , microbiology and biotechnology , rna
The majority of patients with X chromosome-linked retinitis pigmentosa (XlRP) carry mutations in the RPGR gene. The authors studied whether patients with RPGR mutations show additional splice defects that may interfere with RPGR properties.
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