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Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.
Grodecká L, Kováčová T, Kramárek M, Seneca S, Stouffs K, De Laet C, Majer F, Kršjaková T, Hujová P, Hrnčířová K, Souček P, Lissens W, Buratti E, Freiberger T. Grodecká L, et al. Among authors: hujova p. J Mol Med (Berl). 2017 Mar;95(3):299-309. doi: 10.1007/s00109-016-1484-2. Epub 2016 Nov 12. J Mol Med (Berl). 2017. PMID: 27837218