title: Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter.
authors.forename: Masaru
authors.initials: M
authors.lastname: Matsui
authors.forename: Kotaro
authors.initials: K
authors.lastname: Mizutani
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Ohtake
authors.forename: Yukio
authors.initials: Y
authors.lastname: Miki
authors.forename: Koichi
authors.initials: K
authors.lastname: Ishizu
authors.forename: Hidenao
authors.initials: H
authors.lastname: Fukuyama
authors.forename: Takayoshi
authors.initials: T
authors.lastname: Shimohata
authors.forename: Osamu
authors.initials: O
authors.lastname: Onodera
authors.forename: Masatoyo
authors.initials: M
authors.lastname: Nishizawa
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Takayama
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shibasaki
mesh_terms: 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
chemical_list: D020717:Eukaryotic Initiation Factor-2B