Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.
Kranich
H
H
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Bartkowski
S
S
Denton
M J
MJ
Krey
S
S
Dickinson
P
P
Duvigneau
C
C
Gal
A
A
D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012243:Rhodopsin / Q000235:genetics*
D012243:Rhodopsin