title: Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.
authors.forename: J-M
authors.initials: JM
authors.lastname: Rozet
authors.forename: I
authors.initials: I
authors.lastname: Perrault
authors.forename: N
authors.initials: N
authors.lastname: Gigarel
authors.forename: E
authors.initials: E
authors.lastname: Souied
authors.forename: I
authors.initials: I
authors.lastname: Ghazi
authors.forename: S
authors.initials: S
authors.lastname: Gerber
authors.forename: J-L
authors.initials: JL
authors.lastname: Dufier
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Kaplan
mesh_terms: D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D005091:Exons / Q000235:genetics*; D005136:Eye Proteins; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D016366:Open Reading Frames / Q000235:genetics*; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D005136:Eye Proteins; C099929:RPGR protein, human