A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
Perrault
I
I
Rozet
J M
JM
Gerber
S
S
Kelsell
R E
RE
Souied
E
E
Cabot
A
A
Hunt
D M
DM
Munnich
A
A
Kaplan
J
J
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D002874:Chromosome Mapping; D004596:Electroretinography; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006580:Genetic Carrier Screening; D006162:Guanylate Cyclase / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity
D006162:Guanylate Cyclase