Towards genomic database of Alexander disease to identify variations modifying disease phenotype

Alexander disease (AxD) is an extremely rare neurodegenerative disorder caused by glial fibrillary acidic protein (GFAP) gene mutations. Compared with the cerebral type, which is characterized by infantile onset, the bulbospinal type and intermediate form are associated with a late onset, spanning f...

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Detalles Bibliográficos
Autores principales: Yasuda, Rei, Nakano, Masakazu, Yoshida, Tomokatsu, Sato, Ryuichi, Adachi, Hiroko, Tokuda, Yuichi, Mizuta, Ikuko, Saito, Kozo, Matsuura, Jun, Nakagawa, Masanori, Tashiro, Kei, Mizuno, Toshiki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6791890/
https://www.ncbi.nlm.nih.gov/pubmed/31611638
http://dx.doi.org/10.1038/s41598-019-51390-8

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