A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease.
Hodes
M E
ME
Aydanian
A
A
Dlouhy
S R
SR
Whelan
D T
DT
Heshka
T
T
Ronen
G
G
D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005091:Exons; D006801:Humans; D007223:Infant; D008297:Male; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D017354:Point Mutation
D018991:Myelin Proteolipid Protein