The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF

We characterized a consanguineous Turkish family suffering from von Willebrand disease (VWD) with significant mucocutaneous and joint bleeding. The relative reduction of large plasma von Willebrand factor (VWF) multimers and the absent VWF triplet structure was consistent with type 2A (phenotype IIC...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Haberichter, Sandra L., Budde, Ulrich, Obser, Tobias, Schneppenheim, Sonja, Wermes, Cornelia, Schneppenheim, Reinhard
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society of Hematology 2010
Gaiak:
Thrombosis and Hemostasis
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2881501/
https://ncbi.nlm.nih.gov/pubmed/20335223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2009-09-244327
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