Article
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Human mutation - 1 Jul 2012
Flint Daniel, Li Rong, Webster Lital S, Naidu Sakkubai, Kolodny Edwin, Percy Alan, van der Knaap Marjo, Powers James M, Mantovani John F, Ekstein Josef, Goldman James E, Messing Albee, Brenner Michael
Abstract excerpt
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...
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