A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
Copyright policy ) Yasuda, Rei; Yoshida, Tomokatsu; Mizuta, Ikuko; Nakagawa, Masanori; Mizuno, Toshiki;
A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
AbstractAlexander 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 duplication mutation in GFAP resulting in E243dup.
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
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This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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