Cargando…
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.
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
|
Materias: | |
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 |