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Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease
Alexander disease (AxD) is an astrogliopathy that primarily affects the white matter of the central nervous system (CNS). AxD is caused by mutations in a gene encoding GFAP (glial fibrillary acidic protein). The GFAP mutations in AxD have been reported to act in a gain-of-function manner partly beca...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4266748/ https://ncbi.nlm.nih.gov/pubmed/24755947 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.68 |
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