Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization.
Aliza CasselNurit RosenbergEmad MuhammadTami LivnatRima DardikMiriam BerlMeir PreisPublished in: Research and practice in thrombosis and haemostasis (2021)
The patient homozygous for the "Carmel" mutation has mild clinical manifestations despite very low FVII activity, which correlates with thrombin generation results.
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