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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2012
Pynciau:
Article
Mynediad Ar-lein: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
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg