Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.
Hardcastle
A J
AJ
Thiselton
D L
DL
Van Maldergem
L
L
Saha
B K
BK
Jay
M
M
Plant
C
C
Taylor
R
R
Bird
A C
AC
Bhattacharya
S
S
D000595:Amino Acid Sequence; D001483:Base Sequence; D005091:Exons / Q000235:genetics; D005136:Eye Proteins; D005260:Female; D019204:GTP-Binding Proteins; D018740:Genetic Heterogeneity; D008040:Genetic Linkage / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
D005136:Eye Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins; C072178:RP2 protein, human; D019204:GTP-Binding Proteins