A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression

Autor: Bürk, Katrin, Kaiser, Frank J., Tennstedt, Stephanie, Schöls, Ludger, Kreuz, Friedmar R., Wieland, Thomas, Strom, Tim M., Büttner, Thomas, Hollstein, Ronja, Braunholz, Diana, Plaschke, Jens, Gillessen-Kaesbach, Gabriele, Zühlke, Christine
Zdroj: In European Journal of Medical Genetics April 2014 57(5):207-211
Databáze: ScienceDirect