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.
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.
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-threatening condition characterized by recurrent localized edema. We conducted a systematic screening of SERPING1 defects in a cohort of 207 Czech patients from 85 families with C1- …
Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-threatening condition characterized by recurrent loc …