Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.
Rozet
J-M
JM
Perrault
I
I
Gigarel
N
N
Souied
E
E
Ghazi
I
I
Gerber
S
S
Dufier
J-L
JL
Munnich
A
A
Kaplan
J
J
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*
D002352:Carrier Proteins; D005136:Eye Proteins; C099929:RPGR protein, human