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Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease

✍ Scribed by Pen-Jung Wang; Wuh-Liang Hwu; Wang-Tso Lee; Tso-Ren Wang; Yu-Zen Shen

Book ID
117591757
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
367 KB
Volume
17
Category
Article
ISSN
0887-8994

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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