Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.
Mears
A J
AJ
Gieser
L
L
Yan
D
D
Chen
C
C
Fahrner
S
S
Hiriyanna
S
S
Fujita
R
R
Jacobson
S G
SG
Sieving
P A
PA
Swaroop
A
A
D000595:Amino Acid Sequence; D001483:Base Sequence; D005136:Eye Proteins; D018703:Founder Effect; D016368:Frameshift Mutation; D019204:GTP-Binding Proteins; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008565:Membrane Proteins; D008969:Molecular Sequence Data; D009523:Newfoundland and Labrador; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA; 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