Short Communication
- 1 January 2002
- journal article
- research article
- Published by Taylor & Francis in Journal of Neurogenetics
- Vol. 16 (3) , 175-179
- https://doi.org/10.1080/01677060215305
Abstract
Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene were recently found to be associated with Alexander disease. We examined the functional effect of such mutations, and observed a decrease in GFAP dimerization. This effect behaves in a dominant fashion and points towards a potential mechanism in pathogenesis.Keywords
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