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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Brain Commun
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2020
Aiheet:
Original Article
Linkit: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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