Biogenesis of Weibel-Palade bodies in von Willebrand’s disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation

BACKGROUND: Mutations of cysteine residues in von Willebrand factor are known to reduce the storage and secretion of this factor, thus leading to reduced antigen levels. However, one cysteine mutation, p.Cys2773Ser, has been found in patients with type 2A(IID) von Willebrand’s disease who have norma...

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Hlavní autoři: Wang, Jiong-Wei, Groeneveld, Dafna J., Cosemans, Guy, Dirven, Richard J., Valentijn, Karine M., Voorberg, Jan, Reitsma, Pieter H., Eikenboom, Jeroen
Médium: Artigo
Jazyk:Inglês
Vydáno: Ferrata Storti Foundation 2012
Témata:
Original Articles and Brief Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3366651/
https://ncbi.nlm.nih.gov/pubmed/22207689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2011.057216
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