Three novel mutations (P215L, T289P, and 3811-2 A-->G) in the rhodopsin gene in autosomal dominant retinitis pigmentosa in Spanish families.
Martinez-Gimeno
M
M
Servei de Laboratori, Hospital de Terrassa, Crt. Torrebonica s/n 08227 Terrassa, Spain.
Trujillo
M J
MJ
Lorda
I
I
Gimenez
A
A
Calvo
M T
MT
Ayuso
C
C
Carballo
M
M
D019943:Amino Acid Substitution / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics*; D000070780:Perilipin-2; D011110:Polymorphism, Genetic; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013030:Spain
D008565:Membrane Proteins; D000070780:Perilipin-2; D012243:Rhodopsin