A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
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Beryl B. Cummings | Jamie L. Marshall | D. MacArthur | O. Regev | M. Lek | T. Tukiainen | F. Muntoni | B. Cummings | C. Bönnemann | E. Hanssen | K. Mamchaoui | A. Ferlini | Haiyan Zhou | S. Wilton | M. Nalls | S. Donkervoort | A. Foley | R. Butterfield | F. Gualandi | R. Wagener | C. Jiménez-Mallebrera | A. Sarkozy | V. Bolduc | Ying Hu | C. Jou | S. Lamandé | V. Allamand | S. Aguti | A. Sarathy | Herimela Solomon-Degefa | Grace S. Chen | C. Gartioux | D. Marek‐Yagel | K. Sizov | Yan Li | G. S. Chen | A. R. Foley | Grace S. Chen | Russell J. Butterfield | Carsten G. Bönnemann | Grace S. Chen