title: A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Andrigo
authors.forename: Chiara
authors.initials: C
authors.lastname: Boito
authors.forename: Paola
authors.initials: P
authors.lastname: Prandini
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: Gabriele
authors.initials: G
authors.lastname: Siciliano
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
authors.forename: Elena
authors.initials: E
authors.lastname: Pegoraro
mesh_terms: D000328:Adult; D001369:Axons; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics*; D017931:DNA Primers; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D016900:Neurofilament Proteins / Q000235:genetics*; D012016:Reference Values
chemical_list: D017931:DNA Primers; D016900:Neurofilament Proteins; C044882:neurofilament protein L