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A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease.

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.

SUBMITTER: Yasuda R 

PROVIDER: S-EPMC5498426 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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A novel three-base duplication, E243dup, of <i>GFAP</i> identified in a patient with Alexander disease.

Yasuda Rei R   Yoshida Tomokatsu T   Mizuta Ikuko I   Nakagawa Masanori M   Mizuno Toshiki T  

Human genome variation 20170706

Alexander disease (AxD) is a rare hereditary neurodegenerative disorder caused by glial fibrillary acidic protein (<i>GFAP</i>) gene mutations, most of which are missense mutations. We present an AxD case with a novel <i>de novo</i> three-base duplication mutation in <i>GFAP</i> resulting in E243dup. ...[more]

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