Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2☆

Defective retinal synaptic transmission in patients affected with congenital stationary night blindness type 2 (CSNB2) can result from different dysfunction phenotypes in Cav1.4 L-type calcium channels. Here we investigated two prototypical Cav1.4 variants from either end of the functional spectrum....

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Bibliographic Details
Main Authors: Burtscher, Verena, Schicker, Klaus, Novikova, Elena, Pöhn, Birgit, Stockner, Thomas, Kugler, Christof, Singh, Anamika, Zeitz, Christina, Lancelot, Marie-Elise, Audo, Isabelle, Leroy, Bart Peter, Freissmuth, Michael, Herzig, Stefan, Matthes, Jan, Koschak, Alexandra
Format: Online
Language:English
Published: Elsevier Pub. Co 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065569/