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Genomics of bleeding disorders

25 Apr 2014

Abstract excerpt

Molecular genetic tools are widely applied in inherited bleeding disorders. New genes involved in haemorrhagic disorders have been identified by genome wide linkage analysis on families with a specific phenotype. LMNA1 or MCFD in combined FV/FVIII-deficiency and VKORC1 in vitamin K coagulation factor deficiency type 2 are two examples. Identification of the causative gene mutation has become standard for most...

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PMID: 24762275
DOI: 10.1111/hae.12424

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