Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects

The voltage-dependent L-type calcium channel isoform CaV1.2 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 chann...

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Autoren: Kummer, Sebastian, Rinné, Susanne, Seemann, Gunnar, Bachmann, Nadine, Timothy Katherine, Thornton, Paul S., Pillekamp, Frank, Mayatepek, Ertan, Bergmann, Carsten, Meissner, Thomas, Decher, Niels
Format: Artikel
Sprog:engelsk
Udgivet: Philipps-Universität Marburg 2023
Fag:
calcium channel
CACNA1C
Medizin
hyperinsulinism
Medical sciences Medicine
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Klassifikationsnummer: urn:nbn:de:hebis:04-es2023-00746
Publikationsdatum: 2023-07-13
Quelle: Erstveröffentlichung: Kummer, S.; Rinné, S.; Seemann, G.; Bachmann, N.; Timothy, K.; Thornton, P.S.; Pillekamp, F.; Mayatepek, E.; Bergmann, C.; Meissner, T.; et al. Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects. Int. J. Mol. Sci. 2022, 23, 8097. https://doi.org/10.3390/ijms23158097
Downloads: 19 (2024), 23 (2023)
Lizenz: https://creativecommons.org/licenses/by/4.0
Zugangs-URL: https://archiv.ub.uni-marburg.de/es/2023/0074
https://doi.org/10.3390/ijms23158097

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