| 1 | AGPS, ARSE, CDPX1, CDPX2A, CHILD, DHAPAT, EBP, GGCX, HEMSK, KES, LBR, MGP, NSHDL, PEX7, RCDP1, RCDP2, RCDP3, VKCFD2, VKORC1
|
| Chondrodysplasia punctata: a clinical diagnostic and radiological review.
|
| Irving MD, Chitty LS, Mansour S, Hall CM.
|
| Clin Dysmorphol 17(4):229-41.
2008
|
| 2 | VKORC1, VKCFD2
|
| Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
|
| Rost S, Fregin A, Ivaskevicius V, Conzelmann E, Hortnagel K, Pelz HJ, Lappegard K, Seifried E, Scharrer I, Tuddenham EG, Muller CR, Strom TM, Oldenburg J.
|
| Nature 427(6974):537-41. 2004
|
| 3 | VKORC1, VKCFD2
|
| Identification of the gene for vitamin K epoxide reductase.
|
| Li T, Chang CY, Jin DY, Lin PJ, Khvorova A, Stafford DW.
|
| Nature 427(6974):541-4. 2004
|
| 4 | GGCX, GGCXD, VKCFD2, VKORC1
|
| Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.
|
| Fregin A, Rost S, Wolz W, Krebsova A, Muller CR, Oldenburg J.
|
| Blood 100(9):3229-32. 2002
|
| 5 | VKCFD2
|
| Congenital deficiency of vitamin K dependent coagulation factors in two families presents as a genetic defect of the vitamin K-epoxide-reductase-complex.
|
| Oldenburg J, von Brederlow B, Fregin A, Rost S, Wolz W, Eberl W, Eber S, Lenz E, Schwaab R, Brackmann HH, Effenberger W, Harbrecht U, Schurgers LJ, Vermeer C, Muller CR.
|
| Thromb Haemost 84(6):937-41. 2000
|