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Page 1
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Clin Immunol. 2017 Jul;180:33-44. doi: 10.1016/j.clim.2017.03.010. Epub 2017 Mar 27.
Clin Immunol. 2017.
PMID: 28359783
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: krsjakova t.
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
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