@article{bolduc:hal-03285227,
TITLE = {A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies},
AUTHOR = {Bolduc, V{\'e}ronique and Foley, A. Reghan Reghan and Solomon-Degefa, Herimela and Sarathy, Apurva and Donkervoort, Sandra and Hu, Ying and Chen, Grace S and Sizov, Katherine and Nalls, Matthew and Zhou, Haiyan and Aguti, Sara and Cummings, Beryl B and Lek, Monkol and Tukiainen, Taru and Marshall, Jamie L and Regev, Oded and Marek-Yagel, Dina and Sarkozy, Anna and Butterfield, Russell J and Jou, Cristina and Jimenez-Mallebrera, Cecilia and Li, Yan and Gartioux, Corine and Mamchaoui, Kamel and Allamand, Val{\'e}rie and Gualandi, Francesca and Ferlini, Alessandra and Hanssen, Eric and Wilton, Steve D and Lamand{\'e},
Shireen R and Macarthur, Daniel G and Wagener, Raimund and Muntoni, Francesco and B{\"o}nnemann, Carsten G},
URL = {https://hal.sorbonne-universite.fr/hal-03285227},
JOURNAL = {JCI Insight},
PUBLISHER = {American Society for Clinical Investigation},
VOLUME = {4},
NUMBER = {6},
YEAR = {2019},
MONTH = Mar, DOI = {10.1172/jci.insight.124403},
PDF = {https://hal.sorbonne-universite.fr/hal-03285227/file/Bolduc%20et%20al.%20-%20A%20recurrent%20COL6A1%20pseudoexon%20insertion%20causes%20mus.pdf},
HAL_ID = {hal-03285227},
HAL_VERSION = {v1},
}