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Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects 1 in ~350 individuals. Genetic association studies have established ALS as a multifactorial disease with heritability estimated at ~61%, and recent studies show a prominent role for rare variation in its genetic ar...

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書誌詳細
出版年:Sci Rep
主要な著者: Dekker, Annelot M., Diekstra, Frank P., Pulit, Sara L., Tazelaar, Gijs H. P., van der Spek, Rick A., van Rheenen, Wouter, van Eijk, Kristel R., Calvo, Andrea, Brunetti, Maura, Damme, Philip Van, Robberecht, Wim, Hardiman, Orla, McLaughlin, Russell, Chiò, Adriano, Sendtner, Michael, Ludolph, Albert C., Weishaupt, Jochen H., Pardina, Jesus S. Mora, van den Berg, Leonard H., Veldink, Jan H.
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group UK 2019
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6459905/
https://ncbi.nlm.nih.gov/pubmed/30976013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-42091-3
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