Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.
Diagnostics (Basel, Switzerland)
De Palma, Fatima Domenica Elisa FDE; Nunziato, Marcella M; D'Argenio, Valeria V; Savarese, Maria M; Esposito, Gabriella G; Salvatore, Francesco F
Publication Date: 2021-10-15
Variant appearance in text: DMD: 7542+13A>G; rs72466585
Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bujakowska, Kinga M KM; Fernandez-Godino, Rosario R; Place, Emily E; Consugar, Mark M; Navarro-Gomez, Daniel D; White, Joseph J; Bedoukian, Emma C EC; Zhu, Xiaosong X; Xie, Hongbo M HM; Gai, Xiaowu X; Leroy, Bart P BP; Pierce, Eric A EA