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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6791890/
https://ncbi.nlm.nih.gov/pubmed/31611638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-51390-8
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