Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families - 15 new mutations

Haemophilia A (HA), the most commonly inherited bleeding disorder, has well known phenotype heterogeneity, influenced by the type of mutation, modulating factors and development of inhibitors. Nowadays, new technologies in association with bioinformatics tools allow a better genotype/phenotype corre...

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