Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Gal
A
A
Orth
U
U
Baehr
W
W
Schwinger
E
E
Rosenberg
T
T
D015105:3',5'-Cyclic-AMP Phosphodiesterases / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009755:Night Blindness / Q000201:enzymology / Q000235:genetics; D017354:Point Mutation; D017948:Retinal Rod Photoreceptor Cells / Q000201:enzymology
D004247:DNA; D015105:3',5'-Cyclic-AMP Phosphodiesterases