Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.
The Application Of Clinical Genetics
Triana-Fonseca, Paula P; Parada-Márquez, Juan Fernando JF; Silva-Aldana, Claudia T CT; Zambrano-Arenas, Daniela D; Arias-Gomez, Laura Lucia LL; Morales-Fonseca, Natalia N; Medina-Méndez, Esteban E; Restrepo, Carlos M CM; Silgado-Guzmán, Daniel Felipe DF; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2021
Variant appearance in text: DMD: 3184_3199del; Lys1062Leufs*5