Gating defects of disease-causing de novo mutations in Cav1.3 Ca2+ channels

Recently, we and others identified somatic and germline de novo gain-of-function mutations in CACNA1D, the gene encoding the α1-subunit of voltage-gated Cav1.3 Ca2+-channels. While somatic mutations identified in aldosterone producing adenomas (APAs) underlie treatment-resistant hypertension, germli...

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主要な著者:	Alexandra Pinggera, Giulia Negro, Petronel Tuluc, Morris J. Brown, Andreas Lieb, Jörg Striessnig
フォーマット:	Artigo
言語:	Inglês
出版事項:	Taylor & Francis Group 2018-01-01
シリーズ:	Channels
主題:	Aldosterone producing adenomas autism spectrum disorder Ca2+ channel CACNA1D mutation
オンライン･アクセス:	https://www.tandfonline.com/doi/10.1080/19336950.2018.1546518
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