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A novel proteolipid protein 1 gene mutation causing classical type Pelizaeus-Merzbacher disease

โœ Scribed by Shinobu Fukumura; Noriaki Adachi; Masayoshi Nagao; Hiroyuki Tsutsumi

Book ID
113498992
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
227 KB
Volume
33
Category
Article
ISSN
0387-7604

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Proteolipid protein gene duplications ca
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
โœ Ken Inoue; Hitoshi Osaka; Kiyoshi Imaizumi; Atsuo Nezu; Jun-Ichi Takanashi; Junk ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 848 KB

Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder characterized by dysmyelination of the central nervous system (CNS) caused by mutations involving the proteolipid protein gene (PLP). In addition to point and frameshift mutations in the coding region, duplications involving the entire PLP h