Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
Johnson
S
S
Institute of Ophthalmology, University College London, 11-43 Bath Street, London EC1V 9EV, UK.
Michaelides
M
M
Aligianis
I A
IA
Ainsworth
J R
JR
Mollon
J D
JD
Maher
E R
ER
Moore
A T
AT
Hunt
D M
DM
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
C415904:CNGB3 protein, human; D054815:Cyclic Nucleotide-Gated Cation Channels; D007473:Ion Channels