title: Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
authors.affiliation: Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EV, UK.
authors.forename: S
authors.initials: S
authors.lastname: Johnson
authors.forename: M
authors.initials: M
authors.lastname: Michaelides
authors.forename: I A
authors.initials: IA
authors.lastname: Aligianis
authors.forename: J R
authors.initials: JR
authors.lastname: Ainsworth
authors.forename: J D
authors.initials: JD
authors.lastname: Mollon
authors.forename: E R
authors.initials: ER
authors.lastname: Maher
authors.forename: A T
authors.initials: AT
authors.lastname: Moore
authors.forename: D M
authors.initials: DM
authors.lastname: Hunt
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D003117:Color Vision Defects / Q000235:genetics*; D054815:Cyclic Nucleotide-Gated Cation Channels; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005838:Genotype; D006801:Humans; D007473:Ion Channels / Q000737:chemistry* / Q000235:genetics* / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: C415904:CNGB3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels; D007473:Ion Channels