A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations

Autor: Wallace, Stephanie E., Conta, Jessie H., Winder, Thomas L., Willer, Tobias, Eskuri, Jamie M., Haas, Richard, Patterson, Kathleen, Campbell, Kevin P., Moore, Steven A., Gospe, Sidney M., Jr.
Zdroj: In Neuromuscular Disorders April 2014 24(4):312-320
Databáze: ScienceDirect