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Chapter and Conference Paper
Pseudo-Homozygous APC Resistance Due to Coinheritance of Heterozygous Factor V — R506Q and Type I Deficiency Associated with Thrombosis
Resistance to activated protein C (APC resistance) is the most frequent inherited hypercoagulable state that represents a common risk factor for venous thrombosis [1]. This resistance is due to a G > A substituti...
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Chapter and Conference Paper
Structural Investigation of Two Novel Mutations in Coagulation Factor V by Molecular Modeling
Human coagulation factor V (FV) provides an essential function in the coagulation pathway. As a non-enzymatic cofactor of the prothrombinase complex, it is required for the rapid generation of thrombin [1, 2]. Th...
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Chapter and Conference Paper
Molecular Genetic Analysis in Patients with Inherited Factor V Deficiency
Identifying the molecular basis of mutations underlying this rare coagulation disorder will aid to obtain more insight into the mechanisms involved in the variable clinical phenotype of patients with FV defici...
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Chapter and Conference Paper
Rapid and Sensitive Detection of Heterozygous Deletions of one or more Exons in Hemophilia A Females by Multiplex PCR and DHPLC Technique
In conclusion MP/DHPLC technique can reliable identify hemophilia A female carriers, harboring FVIII gene copy number aberrations and it appears to be a powerful tool in genetic concealing of hemophilia families.
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Chapter and Conference Paper
Denaturing High Performance Liquid Chromatography Represents an Efficient Technique for Detection of Heterozygous Large Deletions in Antithrombin Gene
The detection of large gene deletions and rearrangements in AT gene is essential in order to provide an appropriate genetic counseling and treatment in antithrombin deficient patients. We have developed a DHPL...
