Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings

Autor: Louw, Jacoba J., Corveleyn, Anniek, Jia, Yaojuan, Iqbal, Sajid, Boshoff, Derize, Gewillig, Marc, Peeters, Hilde, Moerman, Philippe, Devriendt, Koenraad
Zdroj: In European Journal of Medical Genetics September 2014 57(9):532-535
Databáze: ScienceDirect