Genes > F12 >

References

These sources were used to develop the Genetics Home Reference gene summary on the F12 gene.

Cichon S, Martin L, Hennies HC, Müller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renné T, Drouet C, Bork K, Nöthen MM. Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 2006 Dec;79(6):1098-104. Epub 2006 Oct 18. PubMed citation
Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9. PubMed citation
Entrez Gene
Lombardi AM, Bortoletto E, Scarparo P, Scapin M, Santarossa L, Girolami A. Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes. Blood Coagul Fibrinolysis. 2008 Oct;19(7):639-43. doi: 10.1097/MBC.0b013e32830d8629. PubMed citation
Martin L, Raison-Peyron N, Nöthen MM, Cichon S, Drouet C. 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. J Allergy Clin Immunol. 2007 Oct;120(4):975-7. Epub 2007 Sep 7. PubMed citation
OMIM: COAGULATION FACTOR XII
OMIM: FACTOR XII DEFICIENCY
Renné T, Gailani D. Role of Factor XII in hemostasis and thrombosis: clinical implications. Expert Rev Cardiovasc Ther. 2007 Jul;5(4):733-41. Review. PubMed citation
Schmaier AH. The elusive physiologic role of Factor XII. J Clin Invest. 2008 Sep;118(9):3006-9. doi: 10.1172/JCI36617. Review. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources