A novel deletion (c663delC) at exon 5 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.
Matsumura
T
T
Department of Psychiatry, School of Medicine, Yokohama City University, Tokyo, Japan.
Osaka
H
H
Inoue
K
K
Sugiyama
N
N
Onishi
H
H
Yamada
Y
Y
Hayashi
M
M
Kosaka
K
K
D003596:Cytosine; D005091:Exons / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D020371:Pelizaeus-Merzbacher Disease / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
D018991:Myelin Proteolipid Protein; D003596:Cytosine