Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa.
Liu
L
L
Institute of Genetics, Fudan University, Shanghai, China.
Jin
L
L
Liu
M
M
Wei
Y
Y
Wu
X
X
Liu
Y
Y
Wang
H
H
Chu
R
R
Chai
J
J
D017398:Alternative Splicing; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense / Q000235:genetics; D005136:Eye Proteins; D018698:Glutamic Acid / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000201:enzymology / Q000235:genetics*; D017384:Sequence Deletion; D014960:X Chromosome / Q000235:genetics
D002352:Carrier Proteins; D018389:Codon, Nonsense; D005136:Eye Proteins; C099929:RPGR protein, human; D018698:Glutamic Acid