Die Krankheit mit der Kurzbezeichnung VKCFD1 ist durch ein autosomal rezessiver Mangel an allen Vitamin-K-abhängigen Koagulationsfaktoren (I, VII, IX und X), der durch eine Mutation der gamma-Glutamylcarboxylase (GGCX) bedingt ist.
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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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None (1985) Vitamin K-dependent carboxylase. ![]() |
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Chung KS et al. (1979) Congenital deficiency of blood clotting factors II, VII, IX, and X. ![]() |
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McMillan CW et al. (1966) Congenital combined deficiency of coagulation factors II, VII, IX and X. Report of a case. ![]() |
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Hall JG et al. (1980) Maternal and fetal sequelae of anticoagulation during pregnancy. ![]() |
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Goldsmith GH et al. (1982) Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors. ![]() |
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Johnson CA et al. (1980) Characterization of a variant prothrombin in a patient congenitally deficient in factors II, VII, IX and X. ![]() |
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Howe AM et al. (1997) Severe cervical dysplasia and nasal cartilage calcification following prenatal warfarin exposure. ![]() |
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Menger H et al. (1997) Vitamin K deficiency embryopathy: a phenocopy of the warfarin embryopathy due to a disorder of embryonic vitamin K metabolism. ![]() |
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Khau Van Kien P et al. (1998) Vitamin K deficiency embryopathy. ![]() |
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OMIM.ORG article Omim 277450![]() |