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2. Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. Martin L; Raison-Peyron N; Nöthen MM; Cichon S; Drouet C J Allergy Clin Immunol; 2007 Oct; 120(4):975-7. PubMed ID: 17825897 [No Abstract] [Full Text] [Related]
3. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Dewald G; Bork K Biochem Biophys Res Commun; 2006 May; 343(4):1286-9. PubMed ID: 16638441 [TBL] [Abstract][Full Text] [Related]
4. Hereditary angioedema with normal C1 inhibitor activity including hereditary angioedema with coagulation factor XII gene mutations. Bork K Immunol Allergy Clin North Am; 2006 Nov; 26(4):709-24. PubMed ID: 17085286 [TBL] [Abstract][Full Text] [Related]
5. Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism. Ebo DG; Van Gasse AL; Sabato V; Bartholomeus E; Reyniers E; Vanbellinghen JF; Poirel HA; Mortier G J Allergy Clin Immunol Pract; 2018; 6(1):277-279.e1. PubMed ID: 28888847 [No Abstract] [Full Text] [Related]
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8. Homozygous C1 inhibitor deficiency: The conclusion of a long search. Frank MM; Atkinson JP J Allergy Clin Immunol; 2006 Dec; 118(6):1327-9. PubMed ID: 17157664 [No Abstract] [Full Text] [Related]
9. C1-inhibitor deficiency and angioedema: molecular mechanisms and clinical progress. Cugno M; Zanichelli A; Foieni F; Caccia S; Cicardi M Trends Mol Med; 2009 Feb; 15(2):69-78. PubMed ID: 19162547 [TBL] [Abstract][Full Text] [Related]
11. Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course. Bork K; Gül D; Hardt J; Dewald G Am J Med; 2007 Nov; 120(11):987-92. PubMed ID: 17976427 [TBL] [Abstract][Full Text] [Related]
12. Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men. Bork K; Gül D; Dewald G Br J Dermatol; 2006 Mar; 154(3):542-5. PubMed ID: 16445789 [TBL] [Abstract][Full Text] [Related]
13. Idiopathic angioedema with F12 mutation: is it a new entity? Gelincik A; Demir S; Olgaç M; Karaman V; Toksoy G; Çolakoğlu B; Büyüköztürk S; Uyguner ZO Ann Allergy Asthma Immunol; 2015 Feb; 114(2):154-6. PubMed ID: 25524745 [No Abstract] [Full Text] [Related]
14. The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema. Cumming SA; Halsall DJ; Ewan PW; Lomas DA J Med Genet; 2003 Oct; 40(10):e114. PubMed ID: 14569137 [No Abstract] [Full Text] [Related]
15. A novel SERPING1 gene variant causing angioedema in a patient with low C1q levels. Calvo-Ferrer MA; Martín-Rodríguez S; Ortega-Unanue N; Blasco-Sarramián ÁJ; Bernardo-González I Ann Allergy Asthma Immunol; 2019 Dec; 123(6):610-612. PubMed ID: 31568857 [No Abstract] [Full Text] [Related]
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19. [Hereditary angioedema in a 16-year-old girl]. Kozowicz M; Kordys-Darmolińska B; Kasznia-Kocot J; Woś H; Zukowska B; Kwaśniak A Wiad Lek; 2006; 59(11-12):869-72. PubMed ID: 17427507 [TBL] [Abstract][Full Text] [Related]