Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.
Fuchs
S
S
Institut für Humangenetik, Medizinische Universität, Lübeck, Germany.
Kellner
U
U
Wedemann
H
H
Gal
A
A
D000328:Adult; D001120:Arginine; D001766:Blindness / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009154:Mutation; D012164:Retinal Diseases / Q000235:genetics*; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics; D014960:X Chromosome
D001120:Arginine