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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
Rei Yasuda1, Tomokatsu Yoshida1, Ikuko Mizuta1
1Department of Neurology, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto, Japan.
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 duplication mutation in GFAP resulting in E243dup.
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