학술논문
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
Document Type
Article
Author
Bolduc, V.; Reghan Foley, A.; Sarathy, A.; Donkervoort, S.; Hu, Y.; Chen, G.S.; Sizov, K.; Nalls, M.; Bönnemann, C.G.; Solomon-Degefa, H.; Wagener, R.; Zhou, H.; Aguti, S.; Sarkozy, A.; Ferlini, A.; Muntoni, F.; Cummings, B.B.; Lek, M.; Tukiainen, T.; MacArthur, D.G.; Marshall, J.L.; Regev, O.; Marek-Yagel, D.; Butterfield, R.J.; Jou, C.; Jimenez-Mallebrera, C.; Li, Y.; Gartioux, C.; Mamchaoui, K.; Allamand, V.; Gualandi, F.; Hanssen, E.; Wilton, S.D.; Lamandé, S.R.
Source
In: JCI Insight . (JCI Insight, 21 March 2019, 4(6))
Subject
Language
English
ISSN
23793708