Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel
与 KCNA1 新型新生突变相关的无共济失调的肌肉骨骼特征削弱了 Kv1.1 通道的电压敏感性
期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines9010075
Paola Imbrici, Andrea Accogli, Rikard Blunck, Concetta Altamura, Michele Iacomino, Maria Cristina D'adamo, Anna Allegri, Marina Pedemonte, Noemi Brolatti, Stella Vari, Matteo Cataldi, Valeria Capra, Stefano Gustincich, Federico Zara, Jean-Francois Desaphy, Chiara Fiorillo1
