Original paper
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform
Abstract
Alexander disease results from gain-of-function mutations in the gene encoding glial fibrillary acidic protein (GFAP). At least eight GFAP isoforms have been described, however, the predominant alpha isoform accounts for ∼90% of GFAP protein. We describe exonic variants identified in three unrelated families with Type II Alexander disease that alter the splicing of GFAP pre-messenger RNA (mRNA) and result in the upregulation of a previously...
Paper Details
Title
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform
Published Date
Mar 11, 2020
Journal
Volume
41
Issue
6
Pages
1131 - 1137
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Notes
History