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Proteolipid protein gene: Pelizaeus–Merzbacher disease in humans and neurodegeneration in mice

✍ Scribed by Karen Woodward; Sue Malcolm

Book ID
114174231
Publisher
Elsevier Science
Year
1999
Tongue
English
Weight
134 KB
Volume
15
Category
Article
ISSN
0168-9525

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✍ Ken Inoue; Hitoshi Osaka; Kiyoshi Imaizumi; Atsuo Nezu; Jun-Ichi Takanashi; Junk 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 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