Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit

Advances in Experimental Medicine and Biology

Volumn 664, Issue , 2010, Pages 245-253

  Ding, Xi Qin ^a   Fitzgerald, J Browning ^b   Quiambao, Alexander B ^b   Harry, Cynthia S ^b   Malykhina, Anna P ^b  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; CYCLIC NUCLEOTIDE GATED CHANNEL; PROTEIN CNGA3; PROTEIN SUBUNIT; UNCLASSIFIED DRUG;

CELL MEMBRANE; CELL STRAIN HEK293; COLOR BLINDNESS; CONFERENCE PAPER; CONTROLLED STUDY; CYTOSOL; ELECTROPHYSIOLOGY; GENE MUTATION; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MOUSE; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RETINA CONE; WILD TYPE;

AMINO ACID SUBSTITUTION; ANIMALS; COLOR VISION DEFECTS; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; GENETIC PREDISPOSITION TO DISEASE; HEK293 CELLS; HUMANS; ION CHANNEL GATING; MICE; MUTANT PROTEINS; MUTATION; PROTEIN SUBUNITS; PROTEIN TRANSPORT; RETINAL CONE PHOTORECEPTOR CELLS;

EID: 79959610444     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-1399-9_28     Document Type: Conference Paper

References (12)

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