A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family.
Reig
C
C
Secció de Genética del Hospital Sant Joan de Déu, Barcelona, Spain.
Llecha
N
N
Antich
J
J
Gean
E
E
Tejada
I
I
Molina
M
M
Reventós
J
J
Carballo
M
M
D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006639:Histidine; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013030:Spain; D013912:Threonine
D013912:Threonine; D006639:Histidine; D004247:DNA; D012243:Rhodopsin; D001120:Arginine