Article
Compound heterozygosity for two novel missense mutations in the prothrombin gene in a patient with a severe bleeding tendency.
Thrombosis and haemostasis - 1 Apr 1997
Poort S R, Landolfi R, Bertina R M
Abstract excerpt
The abnormal prothrombin gene of an Italian patient with a severe bleeding tendency and hypoprothrombinemia was selected for study and compared with the prothrombin genes of healthy controls. All the coding and their flanking regions and the 5'- and 3'-UT regions of the prothrombin gene were screened by analyzing the nucleotide sequence of the corresponding PCR products. The patient was found to be heterozygous...
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