The human channel gating-modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome-like phenotype in mice
人类通道门控修饰基因A749G CACNA1D (Cav1.3) 变体可诱导小鼠出现类似神经发育综合征的表型。
期刊:JCI Insight
影响因子:6.1
doi:10.1172/jci.insight.162100
Ortner, Nadine J; Sah, Anupam; Paradiso, Enrica; Shin, Josef; Stojanovic, Strahinja; Hammer, Niklas; Haritonova, Maria; Hofer, Nadja T; Marcantoni, Andrea; Guarina, Laura; Tuluc, Petronel; Theiner, Tamara; Pitterl, Florian; Ebner, Karl; Oberacher, Herbert; Carbone, Emilio; Stefanova, Nadia; Ferraguti, Francesco; Singewald, Nicolas; Roeper, Jochen; Striessnig, Jörg
