Mutation in the Auxiliary Calcium-Channel Subunit CACNA2D4 Causes Autosomal Recessive Cone Dystrophy

Retinal signal transmission depends on the activity of high voltage–gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morph...

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Hauptverfasser: Wycisk, Katharina Agnes, Zeitz, Christina, Feil, Silke, Wittmer, Mariana, Forster, Ursula, Neidhardt, John, Wissinger, Bernd, Zrenner, Eberhart, Wilke, Robert, Kohl, Susanne, Berger, Wolfgang
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2006
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698577/
https://ncbi.nlm.nih.gov/pubmed/17033974
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