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
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author Yasuda, Rei
Yoshida, Tomokatsu
Mizuta, Ikuko
Nakagawa, Masanori
Mizuno, Toshiki
author_facet Yasuda, Rei
Yoshida, Tomokatsu
Mizuta, Ikuko
Nakagawa, Masanori
Mizuno, Toshiki
author_sort Yasuda, Rei
collection PubMed
description 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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spelling pubmed-54984262017-07-07 A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease Yasuda, Rei Yoshida, Tomokatsu Mizuta, Ikuko Nakagawa, Masanori Mizuno, Toshiki Hum Genome Var Data Report 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. Nature Publishing Group 2017-07-06 /pmc/articles/PMC5498426/ /pubmed/28690862 http://dx.doi.org/10.1038/hgv.2017.28 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
spellingShingle Data Report
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
title A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
title_full A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
title_fullStr A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
title_full_unstemmed A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
title_short A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease
title_sort novel three-base duplication, e243dup, of gfap identified in a patient with alexander disease
topic Data Report
url 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
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