TRPM1 mutations are associated with the complete form of congenital stationary night blindness.
Nakamura
Makoto
M
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Sanuki
Rikako
R
Yasuma
Tetsuhiro R
TR
Onishi
Akishi
A
Nishiguchi
Koji M
KM
Koike
Chieko
C
Kadowaki
Mikiko
M
Kondo
Mineo
M
Miyake
Yozo
Y
Furukawa
Takahisa
T
D000328:Adult; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D002648:Child; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D042541:Intracellular Space / Q000378:metabolism; D008297:Male; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009755:Night Blindness / Q000151:congenital* / Q000235:genetics*; D010375:Pedigree; D021381:Protein Transport; D050053:TRPM Cation Channels / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
D050053:TRPM Cation Channels; C492059:TRPM1 protein, human; C116297:Trpm1 protein, mouse