Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset A...
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease
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Publisher
Cham: Springer International Publishing
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Language
English
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Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
Alexander disease is a neurological genetic disorder characterized by progressive white-matter degeneration, with astrocytes containing cytoplasmic aggregates, called Rosenthal fibers, including the intermediate filament glial fibrillary acidic protein (GFAP). The age of onset of the disease defines three different forms, infantile, juvenile and ad...
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Full title
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease
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Record Identifier
TN_cdi_proquest_miscellaneous_70425418
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70425418
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/sj.ejhg.5201995
