Analysis of FUS, PFN2, TDP-43, and PLS3 as potential disease severity modifiers in spinal muscular atrophy

OBJECTIVE: To investigate mutations in genes that are potential modifiers of spinal muscular atrophy (SMA) severity. METHODS: We performed a hypothesis-based search into the presence of variants in fused in sarcoma (FUS), transactive response DNA-binding protein 43 (TDP-43), plastin 3 (PLS3), and pr...

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書誌詳細
出版年:Neurol Genet
主要な著者: Wadman, Renske I., Jansen, Marc D., Curial, Chantall A.D., Groen, Ewout J.N., Stam, Marloes, Wijngaarde, Camiel A., Medic, Jelena, Sodaar, Peter, van Eijk, Kristel R., Huibers, Manon M.H., van Kuik, Joyce, Lemmink, Henny H., van Rheenen, Wouter, Veldink, Jan Herman, van den Berg, Leonard H., van der Pol, W. Ludo
フォーマット: Artigo
言語:Inglês
出版事項: Wolters Kluwer 2019
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6975178/
https://ncbi.nlm.nih.gov/pubmed/32042914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000386
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