Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2

Mutations in the CACNA1F gene encoding the Cav1.4 Ca(2+) channel are associated with X-linked congenital stationary night blindness type 2 (CSNB2). Despite the increasing knowledge about the functional behavior of mutated channels in heterologous systems, the pathophysiological mechanisms that resul...

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Detalles Bibliográficos
Autores principales: Knoflach, Dagmar, Kerov, Vasily, Sartori, Simone B, Obermair, Gerald J, Schmuckermair, Claudia, Liu, Xiaoni, Sothilingam, Vithiyanjali, Garrido, Marina Garcia, Baker, Sheila A, Glösmann, Martin, Schicker, Klaus, Seeliger, Mathias, Lee, Amy, Koschak, Alexandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Landes Bioscience 2013
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4042485/
https://www.ncbi.nlm.nih.gov/pubmed/24051672
http://dx.doi.org/10.4161/chan.26368

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