Citations for
1F12, HRG, KNG1
Common variants of large effect in F12, KNG1, and HRG are associated with activated partial thromboplastin time.
Houlihan LM, Davies G, Tenesa A, Harris SE, Luciano M, Gow AJ, McGhee KA, Liewald DC, Porteous DJ, Starr JM, Lowe GD, Visscher PM, Deary IJ.
Am J Hum Genet 86(4):626-31. Epub 2010 Mar 18.PMID: 20303064 2010
2F11, F12
Factor XI homodimer structure is essential for normal proteolytic activation by factor XIIa, thrombin, and factor XIa.
Wu W, Sinha D, Shikov S, Yip CK, Walz T, Billings PC, Lear JD, Walsh PN.
J Biol Chem 283(27):18655-64. Epub 2008 Apr 25.PMID: 18441012 2008
3F12, HAE3
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III.
Cichon S, Martin L, Hennies HC, Muller F, Van Driessche K, Karpushova A, Stevens W, Colombo R, Renne T, Drouet C, Bork K, Nothen MM.
Am J Hum Genet 79(6):1098-104. Epub 2006 Oct 18. 2006
A common genetic polymorphism (46 C to T substitution) in the 5'-untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level.
Kanaji T, et al.
Blood 91 : 2010-2014. 1998
Mutations in the human factor XII gene.
Schloesser M, Zeerleder S, Lutze G, Halbmayer WM, Hofferbert S, Hinney B, Koestering H, Lammle B, Pindur G, Thies K, Kohler M, Engel W.
Blood 90(10):3967-77. 1997
A novel 5'-upstream mutation in the factor XII gene is associated with a TaqI restriction site in an Alu repeat in factor XII-deficient patients.
Hofferbert S, et al.
Hum Genet 97 : 838-841. 1996
The novel acceptor splice site mutation 11396(G-A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.
Schloesser M, et al.
Hum Mol Genet 4 : 1235-1237. 1995
Coagulation factor XII locarno : the functional defect is caused by the amino acid substitution Arg 353-Pro leading to loss of a kallikrein cleavage site.
Hovinga JK, et al.
Blood 84 : 1173-1181. 1994
Assignment of human coagulation factor XII (fXII) to chromosome 5 by cDNA hybridization to DNA from somatic cell hybrids.
Citarella F, Tripodi M, Fantoni A, Bernardi F, Romeo G, Rocchi M.
Hum Genet 80 : 397-398. 1988
Structural gene encoding human factor XII is located at 5q33-qter.
Royle NJ, et al.
Somat Cell Mol Genet 14 : 217-221. 1988
11CP, CPP, F2, F5TPH, F12
Regional assignment for the human genes encoding FII, FV, FXII, ceruloplasmin and pseudoceruloplasmin.
Riddell DC, et al.
(HGM9) Cytogenet Cell Genet 46 : 682. 1987
Human coagulation factor XII maps on chromosome 5.
Citarella F, et al.
(HGM9) Cytogenet Cell Genet 46 : 593. 1987
Characterization of a cDNA coding for human factor XII (Hageman Factor).
Que BG, et al.
Biochemistry 25 : 1525-1528. 1986
TaqI polymorphism at the human coagulation factor XII locus (F12).
Bernardi F, et al.
Nucleic Acids Res 14 : 5119. 1986
15F2, F5TPH, F7, VWF, F10, F11, F12, F13A1, F13B, FG@
The genetics of blood coagulation.
Graham JB, et al.
Adv Hum Genet 13 : 1-65. 1983