Article
Detection of F8 mutations in carriers and patients with severe hemophilia A. Identification of a novel mutation.
Investigacion clinica - 1 Dec 2016
López-Vásquez Lucía, Albánez Silvia, Pestana Carolina, Porco Antonietta
Abstract excerpt
The molecular diagnosis of haemophilia A (HA) patients has many benefits including diagnosis confirmation and inhibitor risk development prediction. In female carries of a mutation, the molecular diagnosis allows for genetic counseling and prenatal diagnosis, which have become part of the comprehensive care for HA in many countries. Therefore, the aim of this study was to determine the F8 mutations in severe HA...
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