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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.
Gorde:
| Argitaratua izan da: | Hum Genome Var |
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| Egile Nagusiak: | , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
Nature Publishing Group
2017
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5498426/ https://ncbi.nlm.nih.gov/pubmed/28690862 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.28 |
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