C.P.2.16 Novel recessive and dominant mutations in collagen VI causing Ullrich congenital muscular dystrophy and correlation with mRNA degradation

Autor: Briñas, L., Gartioux, C., Ledeuil, C., Quijano-Roy, S., Makri, S., Merlini, L., Topaloglu, H., Roelens, F., Hovers, V., Jeannet, P., Estournet, B., Richard, P., Guicheney, P., Allamand, V.
Zdroj: In Neuromuscular Disorders 2007 17(9):848-849
Databáze: ScienceDirect