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

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.

Detalles Bibliográficos
Autores principales: Yasuda, Rei, Yoshida, Tomokatsu, Mizuta, Ikuko, Nakagawa, Masanori, Mizuno, Toshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498426/
https://www.ncbi.nlm.nih.gov/pubmed/28690862
http://dx.doi.org/10.1038/hgv.2017.28
Descripción
Sumario: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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