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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Vydáno v:Sci Rep
Hlavní autoři: Yasuda, Rei, Nakano, Masakazu, Yoshida, Tomokatsu, Sato, Ryuichi, Adachi, Hiroko, Tokuda, Yuichi, Mizuta, Ikuko, Saito, Kozo, Matsuura, Jun, Nakagawa, Masanori, Tashiro, Kei, Mizuno, Toshiki
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2019
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Article
On-line přístup: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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