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

Kummer, Sebastian; Rinné, Susanne; Seemann, Gunnar; Bachmann, Nadine; Timothy Katherine; Thornton, Paul S.; Pillekamp, Frank; Mayatepek, Ertan; Bergmann, Carsten; Meissner, Thomas; Decher, Niels

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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主要な著者:	Kummer, Sebastian, Rinné, Susanne, Seemann, Gunnar, Bachmann, Nadine, Timothy Katherine, Thornton, Paul S., Pillekamp, Frank, Mayatepek, Ertan, Bergmann, Carsten, Meissner, Thomas, Decher, Niels
フォーマット:	論文
言語:	英語
出版事項:	Philipps-Universität Marburg 2023
主題:	calcium channel CACNA1C Medizin hyperinsulinism Medical sciences Medicine
オンライン･アクセス:	PDFフルテキスト
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Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects

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