Splice Site, Frameshift and Chimeric GFAP Mutations in Alexander Disease

Alexander disease (AxD) is a usually fatal astrogliopathy primarily caused by mutations in the gene encoding 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...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3674965/
https://ncbi.nlm.nih.gov/pubmed/22488673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22094
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