Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene

Autor: Susanne, Rinné, Birgit, Stallmeyer, Alexandra, Pinggera, Michael F, Netter, Lina A, Matschke, Sven, Dittmann, Uwe, Kirchhefer, Ulrich, Neudorf, Joachim, Opp, Jörg, Striessnig, Niels, Decher, Eric, Schulze-Bahr
Rok vydání: 2022
Předmět:
Zdroj: International journal of molecular sciences. 23(22)
ISSN: 1422-0067
Popis: Cav1.3 voltage-gated L-type calcium channels (LTCCs) are involved in cardiac pacemaking, hearing and hormone secretion, but are also expressed postsynaptically in neurons. So far, homozygous loss of function mutations in
Databáze: OpenAIRE