Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan.
Masahiko
M
Yamamoto
Tsuyoshi
T
Yoshihara
Naoki
N
Hattori
Gen
G
Sobue
D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007564:Japan; D008297:Male; D016900:Neurofilament Proteins / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic
D016900:Neurofilament Proteins; C044882:neurofilament protein L