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...

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Vydáno v:Brain Commun
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
Original Article
On-line přístup: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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