Article
A family with factor X deficiency from Argentina: a compound heterozygosis because of the combination of a new mutation (Gln138Arg) with an already known one (Glu350Lys).
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Sept 2016
Girolami Antonio, Molina Maria Angelica, Galletti Maria Laura Lopez, Ferrari Silvia, Sambado Luisa, Guglielmone Hugo
Abstract excerpt
The objective was to investigate a family from Argentina. The proposita was a 51-year-old woman who had a moderate bleeding tendency. Some of her children showed a mild bleeding tendency. Her mother and the husband were asymptomatic. Clotting, immunological and molecular biology techniques were used. Partial thromboplastin, prothrombin, Russell Viper venom-clotting times were moderately prolonged in the...
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