A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E.
Andrigo
Cinzia
C
Boito
Chiara
C
Prandini
Paola
P
Mostacciuolo
Maria Luisa
ML
Siciliano
Gabriele
G
Angelini
Corrado
C
Pegoraro
Elena
E
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
D017931:DNA Primers; D016900:Neurofilament Proteins; C044882:neurofilament protein L