Matsukawa, Takashi

Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. [electronic resource] - Neurogenetics Aug 2011 - 259-61 p. digital

Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't

1364-6753

10.1007/s10048-011-0284-7 doi


Adult
Age of Onset
Amino Acid Substitution
Base Sequence
Eukaryotic Initiation Factor-2B--genetics
Female
Humans
Leukoencephalopathies--epidemiology
Male
Middle Aged
Mutation, Missense--physiology
Nerve Degeneration--genetics
Protein Isoforms--genetics