The disease with the acronyme VKCFD1 is characterized by an autosomal recessive combined deficiency of vitamin-k dependent coagulation factors (I, VII, IX, and X) which is caused by loss-of-function mutations of the gamma-glutamyl carboxylase (GGCX) gene.
1. |
Brenner B et al. (1990) Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants. |
2. |
Brenner B et al. (1998) A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors. |
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NEWCOMB T et al. (1956) Congenital hemorrhagic diathesis of the prothrombin complex. |
4. |
Furie B et al. (1990) Molecular basis of vitamin K-dependent gamma-carboxylation. |
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None (1985) Vitamin K-dependent carboxylase. |
7. |
Chung KS et al. (1979) Congenital deficiency of blood clotting factors II, VII, IX, and X. |
8. |
McMillan CW et al. (1966) Congenital combined deficiency of coagulation factors II, VII, IX and X. Report of a case. |
10. |
Hall JG et al. (1980) Maternal and fetal sequelae of anticoagulation during pregnancy. |
11. |
Goldsmith GH et al. (1982) Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors. |
12. |
Johnson CA et al. (1980) Characterization of a variant prothrombin in a patient congenitally deficient in factors II, VII, IX and X. |
13. |
Howe AM et al. (1997) Severe cervical dysplasia and nasal cartilage calcification following prenatal warfarin exposure. |
14. |
Menger H et al. (1997) Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism. |
15. |
Khau Van Kien P et al. (1998) Vitamin K deficiency embryopathy. |
16. |
OMIM.ORG article Omim 277450 |