title: TRPM1 mutations are associated with the complete form of congenital stationary night blindness.
authors.affiliation: Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamura
authors.forename: Rikako
authors.initials: R
authors.lastname: Sanuki
authors.forename: Tetsuhiro R
authors.initials: TR
authors.lastname: Yasuma
authors.forename: Akishi
authors.initials: A
authors.lastname: Onishi
authors.forename: Koji M
authors.initials: KM
authors.lastname: Nishiguchi
authors.forename: Chieko
authors.initials: C
authors.lastname: Koike
authors.forename: Mikiko
authors.initials: M
authors.lastname: Kadowaki
authors.forename: Mineo
authors.initials: M
authors.lastname: Kondo
authors.forename: Yozo
authors.initials: Y
authors.lastname: Miyake
authors.forename: Takahisa
authors.initials: T
authors.lastname: Furukawa
mesh_terms: 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
chemical_list: D050053:TRPM Cation Channels; C492059:TRPM1 protein, human; C116297:Trpm1 protein, mouse