Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.
Borrego
S
S
Unidad de Genética Médica, Hospital Universitario, Sevilla, Spain.
Sánchez
B
B
Ruiz
A
A
Antiñolo
G
G
D001483:Base Sequence; D003062:Codon / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
D003062:Codon; D012243:Rhodopsin