Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K–dependent coagulation factor deficiency

Hereditary combined vitamin K–dependent (VKD) coagulation factor deficiency is an autosomal recessive bleeding disorder associated with defects in either the γ-carboxylase, which carboxylates VKD proteins to render them active, or the vitamin K epoxide reductase (VKORC1), which supplies the reduced...

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Hauptverfasser: Darghouth, Dhouha, Hallgren, Kevin W., Shtofman, Rebecca L., Mrad, Amel, Gharbi, Youssef, Maherzi, Ahmed, Kastally, Radhia, LeRicousse, Sophie, Berkner, Kathleen L., Rosa, Jean-Philippe
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Hematology 2006
Schlagworte:
Hemostasis, Thrombosis, and Vascular Biology
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895532/
https://ncbi.nlm.nih.gov/pubmed/16720838
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2005-12-010660
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