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...

Whakaahuatanga katoa

Ngā taipitopito rārangi puna kōrero

Ngā kaituhi matua:	Kummer, Sebastian, Rinné, Susanne, Seemann, Gunnar, Bachmann, Nadine, Timothy Katherine, Thornton, Paul S., Pillekamp, Frank, Mayatepek, Ertan, Bergmann, Carsten, Meissner, Thomas, Decher, Niels
Hōputu:	Tuhinga
Reo:	Ingarihi
I whakaputaina:	Philipps-Universität Marburg 2023
Ngā marau:	hyperinsulinism CACNA1C Medizin calcium channel Medical sciences Medicine
Urunga tuihono:	Kuputuhi katoa PDF
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!