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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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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier Pub. Co 2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065569/ https://www.ncbi.nlm.nih.gov/pubmed/24796500 http://dx.doi.org/10.1016/j.bbamem.2014.04.023

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