A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy

Por Al-Hashim, Aqeela, Gonorazky, Hernan D., Amburgey, Kimberly, Das, Soma, Dowling, James J.
Publicado no Neurol Genet (2017)

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

Por Wojtal, Daria, Kemaladewi, Dwi U., Malam, Zeenat, Abdullah, Sarah, Wong, Tatianna W.Y., Hyatt, Elzbieta, Baghestani, Zahra, Pereira, Sergio, Stavropoulos, James, Mouly, Vincent, Mamchaoui, Kamel, Muntoni, Francesco, Voit, Thomas, Gonorazky, Hernan D., Dowling, James J., Wilson, Michael D., Mendoza-Londono, Roberto, Ivakine, Evgueni A., Cohn, Ronald D.
Publicado no Am J Hum Genet (2016)