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Characterization of two pathological gating-charge substitutions in Cav1.4 L-type calcium channels

Cav1.4 L-type calcium channels are predominantly expressed at the photoreceptor terminals and in bipolar cells, mediating neurotransmitter release. Mutations in its gene, CACNA1F, can cause congenital stationary night-blindness type 2 (CSNB2). Due to phenotypic variability in CSNB2, characterization...

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Detalles Bibliográficos
Autores principales:	Heigl, Thomas, Netzer, Michael A., Zanetti, Lucia, Ganglberger, Matthias, Fernández-Quintero, Monica L., Koschak, Alexandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Taylor & Francis 2023
Materias:	Voltage Gated Calcium Channels: From Structure to Function and Disease Relevance
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10038055/ https://www.ncbi.nlm.nih.gov/pubmed/36943941 http://dx.doi.org/10.1080/19336950.2023.2192360

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