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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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Autori principali: Haberichter, Sandra L., Budde, Ulrich, Obser, Tobias, Schneppenheim, Sonja, Wermes, Cornelia, Schneppenheim, Reinhard
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2010
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Accesso online: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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