GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases a...
GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant
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Netherlands: Elsevier B.V
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English
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Netherlands: Elsevier B.V
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AbstractObjectivesAlexander disease (AxD) is a rare autosomal dominant disorder due to GFAP mutations; infantile AxD is the most common severe form which usually results in death. In this study, phenotype and genotype analysis of all reported cases with IAxD are reported as well as a de novo variant. MethodsWe conduct a comprehensive review on all...
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GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant
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TN_cdi_proquest_miscellaneous_2543443579
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2543443579
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ISSN
0303-8467,1872-6968
E-ISSN
1872-6968
DOI
10.1016/j.clineuro.2021.106754
