Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

Autor: Cacheux, Marine, Blum, Ariane, Sébastien, Muriel, Wozny, Anne Sophie, Brocard, Julie, Mamchaoui, Kamel, Mouly, Vincent, Roux-Buisson, Nathalie, Rendu, John, Monnier, Nicole, Krivosic, Renée, Allen, Paul, Lacour, Arnaud, Lunardi, Joël, Fauré, Julien, Marty, Isabelle
Zdroj: Journal of Neuromuscular Diseases; October 2015, Vol. 2 Issue: 4 p421-432, 12p
Databáze: Supplemental Index