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Proteolipid protein gene dosage effect in Pelizaeus–Merzbacher disease

✍ Scribed by Ellis, David; Malcolm, Sue

Book ID
109915670
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
229 KB
Volume
6
Category
Article
ISSN
1061-4036

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Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
✍ 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