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Genetic sequence analysis of inherited bleeding diseases

12 Oct 2013

Abstract excerpt

The genes encoding the coagulation factor proteins were among the first human genes to be characterized over 25 years ago. Since then, significant progress has been made in the translational application of this information for the 2 commonest severe inherited bleeding disorders, hemophilia A and B. For these X-linked disorders, genetic characterization of the disease-causing mutations is now incorporated into the...

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PMID: 24124085
DOI: 10.1182/blood-2013-05-505511

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