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Characterization of vitamin K–dependent carboxylase mutations that cause bleeding and nonbleeding disorders

Vitamin K–dependent coagulation factors deficiency is a bleeding disorder mainly associated with mutations in γ-glutamyl carboxylase (GGCX) that often has fatal outcomes. Some patients with nonbleeding syndromes linked to GGCX mutations, however, show no coagulation abnormalities. The correlation be...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Blood
Hauptverfasser: Tie, Jian-Ke, Carneiro, Jorge D. A., Jin, Da-Yun, Martinhago, Ciro D., Vermeer, Cees, Stafford, Darrel W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2016
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832504/
https://ncbi.nlm.nih.gov/pubmed/26758921
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-10-677633
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