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Archetypal and New Families with Alexander Disease and Novel Mutations in GFAP
OBJECTIVE: Alexander disease typically results from dominant mutations in GFAP that arise de novo. However, several instances of multigenerational familial cases have been reported, with some of the most extensive having been described prior to the identification of GFAP as the related gene. These h...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3574575/ https://ncbi.nlm.nih.gov/pubmed/21987397 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2011.1181 |
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