Gating defects of disease-causing de novo mutations in Ca(v)1.3 Ca(2+) channels

Recently, we and others identified somatic and germline de novo gain-of-function mutations in CACNA1D, the gene encoding the α1-subunit of voltage-gated Ca(v)1.3 Ca(2+)-channels. While somatic mutations identified in aldosterone producing adenomas (APAs) underlie treatment-resistant hypertension, ge...

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Detalles Bibliográficos
Autores principales: Pinggera, Alexandra, Negro, Giulia, Tuluc, Petronel, Brown, Morris J., Lieb, Andreas, Striessnig, Jörg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287693/
https://www.ncbi.nlm.nih.gov/pubmed/30465465
http://dx.doi.org/10.1080/19336950.2018.1546518

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