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