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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Biol Chem
Egile Nagusiak: Heaven, Michael R., Wilson, Landon, Barnes, Stephen, Brenner, Michael
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Biochemistry and Molecular Biology 2019
Gaiak:
Sarrera elektronikoa: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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