Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
Perrault
I
I
Rozet
J M
JM
Ghazi
I
I
Leowski
C
C
Bonnemaison
M
M
Gerber
S
S
Ducroq
D
D
Cabot
A
A
Souied
E
E
Dufier
J L
JL
Munnich
A
A
Kaplan
J
J
D001766:Blindness / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D002352:Carrier Proteins; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003241:Consanguinity; D005136:Eye Proteins; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D011956:Receptors, Cell Surface; D017949:Retinal Cone Photoreceptor Cells / Q000503:physiopathology; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
D002352:Carrier Proteins; D005136:Eye Proteins; D006162:Guanylate Cyclase; D011506:Proteins; D011956:Receptors, Cell Surface; D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase; C110715:guanylate cyclase 1