Gly319 --> arg substitution in the dysfunctional prothrombin Segovia.

Abstract

The molecular defect of a congenitally dysfunctional form of prothrombin, prothrombin Segovia, was identified in a patient with a severe bleeding tendency, reduced prothrombin coagulant activity, and normal antigen level. Nucleotide sequencing of amplified DNA revealed a G --> A change at nucleotide 7539 of exon 9 of the prothrombin gene. This resulted in… (More)

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@article{Akhavan1999Gly319A, title={Gly319 --> arg substitution in the dysfunctional prothrombin Segovia.}, author={S. Akhavan and Eduardo P. C. Rocha and S Zeinali and Pablo Mannucci}, journal={British journal of haematology}, year={1999}, volume={105 3}, pages={667-9} }