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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....
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier Pub. Co
2014
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Materias: | |
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 |