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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Natura: | Articolo |
Lingua: | inglese |
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Philipps-Universität Marburg
2023
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urn:nbn:de:hebis:04-es2023-00746 |
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Data di pubblicazione: |
2023-07-13 |
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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 |
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https://creativecommons.org/licenses/by/4.0 |
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https://archiv.ub.uni-marburg.de/es/2023/0074 https://doi.org/10.3390/ijms23158097 |