Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy

Clinical severity and treatment response vary significantly between patients with spinal muscular atrophy. The approval of therapies and the emergence of neonatal screening programmes urgently require a more detailed understanding of the genetic variants that underlie this clinical heterogeneity. We...

詳細記述

保存先:
書誌詳細
出版年:Brain Commun
主要な著者: Wadman, Renske I, Jansen, Marc D, Stam, Marloes, Wijngaarde, Camiel A, Curial, Chantall A D, Medic, Jelena, Sodaar, Peter, Schouten, Jan, Vijzelaar, Raymon, Lemmink, Henny H, van den Berg, Leonard H, Groen, Ewout J N, van der Pol, W Ludo
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
主題:
Original Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7425299/
https://ncbi.nlm.nih.gov/pubmed/32954327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/braincomms/fcaa075
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