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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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Bibliografische gegevens
Hoofdauteurs: Messing, Albee, Li, Rong, Naidu, Sakkubai, Taylor, J. Paul, Silverman, Lital, Flint, Daniel, van der Knaap, Marjo S., Brenner, Michael
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2011
Onderwerpen:
Online toegang: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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