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 |
Externí odkaz: |