Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutations.
Lee
H-N
HN
Koh
S-H
SH
Lee
K-Y
KY
Ki
C-S
CS
Lee
Y J
YJ
D017668:Age of Onset; D001259:Ataxia / Q000209:etiology / Q000235:genetics / Q000473:pathology; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D003072:Cognition Disorders / Q000209:etiology / Q000235:genetics / Q000473:pathology; D017124:Conserved Sequence; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009035:Mothers; D020125:Mutation, Missense; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D019636:Neurodegenerative Diseases / Q000150:complications / Q000235:genetics* / Q000473:pathology
D020717:Eukaryotic Initiation Factor-2B