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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.
Grombirikova H, Bily V, Soucek P, Kramarek M, Hakl R, Ballonova L, Ravcukova B, Ricna D, Kozena K, Kratochvilova L, Sobotkova M, Zachova R, Kuklinek P, Kralickova P, Krcmova I, Hanzlikova J, Vachova M, Krystufkova O, Dankova E, Jesenak M, Novackova M, Svoboda M, Litzman J, Freiberger T. Grombirikova H, et al. Among authors: freiberger t. J Clin Immunol. 2023 Nov;43(8):1974-1991. doi: 10.1007/s10875-023-01565-w. Epub 2023 Aug 25. J Clin Immunol. 2023. PMID: 37620742 Free PMC article.
Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency.
Litzman J, Freiberger T, Grimbacher B, Gathmann B, Salzer U, Pavlík T, Vlcek J, Postránecká V, Trávnícková Z, Thon V. Litzman J, et al. Among authors: freiberger t. Clin Exp Immunol. 2008 Sep;153(3):324-30. doi: 10.1111/j.1365-2249.2008.03700.x. Epub 2008 Jul 11. Clin Exp Immunol. 2008. PMID: 18637104 Free PMC article.
179 results