Leiden mutation is
Correct Answer: Mis-sense mutation
Description: Ans. is 'b' i.e., Mis-sense mutation Factor V Leiden (FVL) mutation is a mis-sense type of point mutation in the gene for clotting factor V. As a missense substitution of base G to base A, it changes the protein's amino acid from arginine to glutamine.It has autosomal dominant inheritance and is the most common cause of inherited thrombophilia.Factor V is one of the essential clotting factors in the coagulation cascade.FVL mutation causes activated protein C resistance, hence leading to the hypercoagulable state.It is associated with increased risk of DVT 6, recurrent miscarriages
Category:
Pathology
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