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: 1483-72T>C; rs17309542
The dystrophin gene and cognitive function in the general population.
European Journal Of Human Genetics : Ejhg
Vojinovic, Dina D; Adams, Hieab H H HH; van der Lee, Sven J SJ; Ibrahim-Verbaas, Carla A CA; Brouwer, Rutger R; van den Hout, Mirjam C G N MC; Oole, Edwin E; van Rooij, Jeroen J; Uitterlinden, Andre A; Hofman, Albert A; van IJcken, Wilfred F J WF; Aartsma-Rus, Annemieke A; van Ommen, GertJan B GB; Ikram, M Arfan MA; van Duijn, Cornelia M CM; Amin, Najaf N