Related Experiment Video
Updated: Apr 20, 2026
13:08
Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
Published on: September 9, 2012
19.6K
Characterization of an apparently synonymous F5 mutation causing aberrant splicing and factor V deficiency
F Nuzzo1, C Bulato2, B I Nielsen3
1Department of Biochemistry, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, The Netherlands.
Summary
A novel mutation in the F5 gene causes coagulation factor V (FV) deficiency by disrupting pre-mRNA splicing, leading to a non-functional FV protein. This highlights the importance of analyzing cDNA for accurate genetic mutation assessment.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Coagulation factor V (FV) deficiency is a rare, autosomal recessive bleeding disorder.
- Severe FV deficiency (FV:C < 3%) presents with moderate bleeding symptoms.
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