Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3 R427C and A3R563C

European Journal of Neuroscience

Volumn 27, Issue 9, 2008, Pages 2391-2401

  Koeppen, Katja ^a   Reuter, Peggy ^a   Kohl, Susanne ^a   Baumann, Britta ^a   Ladewig, Thomas ^a   Wissinger, Bernd ^a  

^a Institute for Ophthalmic Research   (Germany)

Author keywords

Achromatopsia; CNG channel; Cone photoreceptor; Mutation

Indexed keywords

CALCIUM; CHAPERONE; CYCLIC AMP; CYCLIC GMP; CYCLIC NUCLEOTIDE GATED CHANNEL ALPHA 3; GLYCEROL; ION CHANNEL;

AMINO ACID SUBSTITUTION; ARTICLE; CELL MEMBRANE; COLOR BLINDNESS; CONTROLLED STUDY; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; PATCH CLAMP; PATHOGENICITY; PRIORITY JOURNAL; PROTEIN EXPRESSION;

BLOTTING, WESTERN; COLOR VISION DEFECTS; CONES (RETINA); CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION; PATCH-CLAMP TECHNIQUES; PROTEIN TRANSPORT;

EID: 42549108564     PISSN: 0953816X     EISSN: 14609568     Source Type: Journal    
DOI: 10.1111/j.1460-9568.2008.06195.x     Document Type: Article

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