New mutation in the 3'-acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family.
Reig
C
C
Secció de Genètica, Hospital de Sant Joan de Déu, Barcelona, Spain.
Alvarez
A I
AI
Tejada
I
I
Molina
M
M
Aróstegui
E
E
Martín
R
R
Antich
J
J
Carballo
M
M
D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010375:Pedigree; D012326:RNA Splicing; D012174:Retinitis Pigmentosa / Q000208:ethnology / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*; D013030:Spain
D012243:Rhodopsin