A de novo mutation (C755T; Ser252Phe) in exon 6 of the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease
Clin Genet
.
1998 Sep;54(3):248-9.
doi: 10.1111/j.1399-0004.1998.tb04295.x.
Authors
M E Hodes
,
A Aydanian
,
S R Dlouhy
,
D T Whelan
,
T Heshka
,
G Ronen
PMID:
9788732
DOI:
10.1111/j.1399-0004.1998.tb04295.x
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Diffuse Cerebral Sclerosis of Schilder / genetics*
Exons
Humans
Infant
Male
Myelin Proteolipid Protein / genetics*
Point Mutation*
Substances
Myelin Proteolipid Protein