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Hyperinsulinemic Hypoglycemia Associated with a Ca(V)1.2 Variant with Mixed Gain- and Loss-of-Function Effects

The voltage-dependent L-type calcium channel isoform Ca(V)1.2 is critically involved in many physiological processes, e.g., in cardiac action potential formation, electromechanical coupling and regulation of insulin secretion by beta cells. Gain-of-function mutations in the calcium voltage-gated cha...

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Detalles Bibliográficos
Autores principales: Kummer, Sebastian, Rinné, Susanne, Seemann, Gunnar, Bachmann, Nadine, Timothy, Katherine, Thornton, Paul S., Pillekamp, Frank, Mayatepek, Ertan, Bergmann, Carsten, Meissner, Thomas, Decher, Niels
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332183/
https://www.ncbi.nlm.nih.gov/pubmed/35897673
http://dx.doi.org/10.3390/ijms23158097