A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
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DOI: 10.1038/hgv.2017.28
Abstract: Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations, most of which are missense mutations. We present an AxD case with a novel de novo three-base… read more here.
Keywords: three base; base duplication; alexander disease;