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Article

Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients.

American journal of hematology - 1 Sept 2012

Solimando Maria, Baronciani Luciano, La Marca Silvia, Cozzi Giovanna, Asselta Rosanna, Canciani Maria Teresa, Federici Augusto B, Peyvandi Flora

Abstract excerpt

Type 3 von Willebrand disease (VWD3) is characterized by unmeasurable von Willebrand factor (VWF) levels in plasma and platelets and severe but variable hemorrhagic symptoms. To identify and characterize the causal mutations, we screened 10 Italian patients with VWD3 by several techniques including Multiplex Ligation-dependent Probe Amplification to identify large insertions and deletions, High Resolution Melting...

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PMID: 22674667
DOI: 10.1002/ajh.23265

Genes

VWF

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