A large deletion at the 3' end of the rhodopsin gene in an Italian family with a diffuse form of autosomal dominant retinitis pigmentosa.
Servizo Universitario di Genetica Medica, Ospedale Molinette, Torino, Italy.
G
G
Restagno
M
M
Maghtheh
S
S
Bhattacharya
M
M
Ferrone
S
S
Garnerone
R
R
Samuelly
A
A
Carbonara
D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000145:classification / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D017384:Sequence Deletion
D012243:Rhodopsin