Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
Recently a new gene called RPGR (retinitis pigmentosa GTPase regulator) was isolated in Xp21.1 and found to be mutated in patients with RP3 type X-linked retinitis pigmentosa. Two new mutations, the first a single base pair deletion and the other a two base pairs deletion, have been found in one Spanish and one Italian family.
Miano
M G
MG
International Institute of Genetics and Biophysics, CNR, Naples, Italy.
Valverde
D
D
Solans
T
T
Grammatico
B
B
Migliaccio
C
C
Cirigliano
V
V
DeBernardo
C
C
Ventruto
V
V
Meitinger
T
T
Wright
A
A
Del Porto
G
G
Baiget
M
M
D'Urso
M
M
Ciccodicola
A
A
D002352:Carrier Proteins / Q000235:genetics*; D004398:Dyneins / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics*
D002352:Carrier Proteins; D011506:Proteins; D004398:Dyneins