A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease.
Kawanishi
C
C
Department of Psychiatry, Yokohama City University, Japan.
Osaka
H
H
Owa
K
K
Inoue
K
K
Miyakawa
T
T
Onishi
H
H
Yamada
Y
Y
Suzuki
K
K
Kimura
S
S
Kosaka
K
K
D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D005091:Exons; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011859:Radiography
D018991:Myelin Proteolipid Protein