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Identification of a novel mutation in the factor VIII gene causing severe haemophilia A

31 Jul 2018

Abstract excerpt

Deficiency in coagulation factor VIII encoded by F8 results in the X-linked recessive bleeding disorder haemophilia A (HEMA). Here we describe the identification of a novel variant in the factor VIII gene, F8 , in an adult male patient with severe haemophilia A. The patient was diagnosed in early childhood and subsequently co-infected with Hepatitis C and HIV acquired during early blood transfusion for...

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PMID: 30083353
DOI: 10.1186/s12878-018-0113-4

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