Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter.
Matsui
Masaru
M
Mizutani
Kotaro
K
Ohtake
Hiroaki
H
Miki
Yukio
Y
Ishizu
Koichi
K
Fukuyama
Hidenao
H
Shimohata
Takayoshi
T
Onodera
Osamu
O
Nishizawa
Masatoyo
M
Takayama
Yoshihiro
Y
Shibasaki
Hiroshi
H
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D018450:Disease Progression; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction
D020717:Eukaryotic Initiation Factor-2B