Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.

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作者： Hana,Grombirikova ^[1] ; Viktor,Bily ^[2] ; Premysl,Soucek ^[1] ; Michal,Kramarek ^[2] ; Roman,Hakl ^[1] ; Lucie,Ballonova ^[2] ; Barbora,Ravcukova ^[1] ; Dita,Ricna ^[2] ; Karolina,Kozena ^[3] ; Lucie,Kratochvilova ^[2] ; Marta,Sobotkova ^[4] ; Radana,Zachova ^[1] ; Pavel,Kuklinek ^[3] ; Pavlina,Kralickova ^[1] ; Irena,Krcmova ^[1] ; Jana,Hanzlikova ^[1] ; Martina,Vachova ^[2] ; Olga,Krystufkova ^[1] ; Eva,Dankova ^[5] ; Milos,Jesenak ^[5] ; Martina,Novackova ^[3] ; Michal,Svoboda ^[6] ; Jiri,Litzman ^[6] ; Tomas,Freiberger ^[7]

作者单位： Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic. ^[1] Faculty of Medicine, Masaryk University, Brno, Czech Republic. ^[2] Faculty of Science, Masaryk University, Brno, Czech Republic. ^[3] Department of Allergology and Clinical Immunology, St. Anne's University Hospital in Brno, Brno, Czech Republic. ^[4] Department of Immunology, 2nd Medical School, Charles University and University Hospital Motol, Prague, Czech Republic. ^[5] Institute of Clinical Immunology and Allergy, University Hospital Hradec Kralove, Faculty of Medicine in Hradec Kralove, Charles University, Hradec Kralove, Czech Republic. ^[6] Department of Immunology and Allergology, University Hospital Pilsen, Pilsen, Czech Republic. ^[7] Department of Immunology and Allergology, Faculty of Medicine in Pilsen, Charles University, Pilsen, Czech Republic. ^[8] Institute of Rheumatology and Department of Rheumatology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic. ^[9] Immunia, Prague, Czech Republic. ^[10] National Centre for Hereditary Angioedema, Department of Pediatrics, Department of Pulmonology and Pathophysiology, Department of Clinical Immunology and Allergology, Comenius University in Bratislava, Jessenius Faculty of Medicine, University Teaching Hospital in Martin, Martin, Slovakia. ^[11] Institute of Biostatistics and Analyses, Ltd., Brno, Czech Republic. ^[12] Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic. tomas.freiberger@cktch.cz. ^[13] Faculty of Medicine, Masaryk University, Brno, Czech Republic. tomas.freiberger@cktch.cz. ^[14]

关键词 C1-INH-HAE HAE SERPING1 genotype–phenotype relationship hereditary angioedema splicing time to diagnosis

主题词人类(Humans);补体C1抑制蛋白质(Complement C1 Inhibitor Protein);血管水肿, 遗传性(Angioedemas, Hereditary);捷克共和国(Czech Republic);RNA剪接(RNA Splicing);RNA, 信使(RNA, Messenger)

DOI 10.1007/s10875-023-01565-w

PMID 37620742

发布时间 2024-02-21

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