Splice site, frameshift, and chimericGFAPmutations in Alexander disease
Abstract
Alexander disease (AxD) is a usually fatal astrogliopathy primarily caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed in astrocytes. We describe three patients with unique characteristics, and whose mutations have implications for AxD diagnosis and studies of intermediate filaments. Patient 1 is the first reported case with a noncoding mutation. The patient has a splice...
Paper Details
Title
Splice site, frameshift, and chimericGFAPmutations in Alexander disease
Published Date
Apr 30, 2012
Journal
Volume
33
Issue
7
Pages
1141 - 1148
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