Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

American Journal of Human Genetics

Volumn 79, Issue 5, 2006, Pages 973-977

  Wycisk, Katharina Agnes ^a   Zeitz, Christina ^a   Feil, Silke ^a   Wittmer, Mariana ^a   Forster, Ursula ^a   Neidhardt, John ^a   Wissinger, Bernd ^b   Zrenner, Eberhart ^b   Wilke, Robert ^b   Kohl, Susanne ^b   Berger, Wolfgang ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CALCIUM CHANNEL; CALCIUM CHANNEL L TYPE; CALCIUM CHANNEL SUBUNIT CACNA2D4; CYTOSINE; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE CONE DYSTROPHY; AUTOSOMAL RECESSIVE DISORDER; CACNA2D4 GENE; CASE REPORT; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; MALE; MOUSE MUTANT; NIGHT BLINDNESS; NUCLEIC ACID BASE SUBSTITUTION; OPEN READING FRAME; ORTHOLOGY; PHOTORECEPTOR; PRIORITY JOURNAL; RETINA CONE; RETINA DYSTROPHY; RETINA ROD; SIGNAL TRANSDUCTION; STOP CODON; SYMPTOMATOLOGY; SYNAPSE;

EID: 33751110923     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/508944     Document Type: Article

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