Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies.
Sato
Motoya
M
Department of Ophthalmology, Hirosaki University School of Medicine, Japan.
Nakazawa
Mitsuru
M
Usui
Tomoaki
T
Tanimoto
Naoyuki
N
Abe
Haruki
H
Ohguro
Hiroshi
H
D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D002135:Calcium-Binding Proteins / Q000235:genetics*; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D005799:Genes, Dominant; D005820:Genetic Testing; D005998:Glycine; D051604:Guanylate Cyclase-Activating Proteins; D006801:Humans; D007532:Isoleucine; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012164:Retinal Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D013912:Threonine; D014794:Visual Fields
D002135:Calcium-Binding Proteins; C496739:GUCA1B protein, human; D051604:Guanylate Cyclase-Activating Proteins; D007532:Isoleucine; D013912:Threonine; D001120:Arginine; D005998:Glycine