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Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease
Alexander disease (AxD) is an often fatal astrogliopathy caused by dominant gain-of-function missense mutations in the glial fibrillary acidic protein (GFAP) gene. The mechanism by which the mutations produce the AxD phenotype is not known. However, the observation that features of AxD are displayed...
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| Publié dans: | J Biol Chem |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Society for Biochemistry and Molecular Biology
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6816090/ https://ncbi.nlm.nih.gov/pubmed/31484723 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA119.009777 |
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