Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

Autor: Cameron, Jessie M., Levandovskiy, Valeriy, MacKay, Nevena, Utgikar, Rucha, Ackerley, Cameron, Chiasson, David, Halliday, William, Raiman, Julian, Robinson, Brian H.
Zdroj: In Molecular Genetics and Metabolism 2009 98(4):378-382
Databáze: ScienceDirect