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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E; COL6A1 Intron 11 Study Group; Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG. Bolduc V, et al. Among authors: sizov k. JCI Insight. 2019 Mar 21;4(6):e124403. doi: 10.1172/jci.insight.124403. eCollection 2019 Mar 21. JCI Insight. 2019. PMID: 30895940 Free PMC article.
[Prolit in combined treatment of urolithiasis].
Gorlenko VN, Gorlenko OV, Lezhnin SI, Velichko DN, Sizov KA. Gorlenko VN, et al. Among authors: sizov ka. Urologiia. 2007 Jan-Feb;(1):43-5. Urologiia. 2007. PMID: 17471998 Clinical Trial. Russian.