Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia

The von Willebrand receptor complex, which is composed of the glycoproteins Ibα and Ibβ, V and IX, plays an essential role in the earliest steps in hemostasis. Over the last four decades, it has become apparent that loss of function of any one of three of the genes encoding these glycoproteins namel...

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Bibliografiska uppgifter
I publikationen:Blood
Huvudupphovsmän: Sivapalaratnam, Suthesh, Westbury, Sarah K., Stephens, Jonathan C., Greene, Daniel, Downes, Kate, Kelly, Anne M., Lentaigne, Claire, Astle, William J., Huizinga, Eric G., Nurden, Paquita, Papadia, Sofia, Peerlinck, Kathelijne, Penkett, Christopher J., Perry, David J., Roughley, Catherine, Simeoni, Ilenia, Stirrups, Kathleen, Hart, Daniel P., Tait, R Campbell, Mumford, Andrew D., Laffan, Michael A., Freson, Kathleen, Ouwehand, Willem H., Kunishima, Shinji, Turro, Ernest
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2016
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6037295/
https://ncbi.nlm.nih.gov/pubmed/28064200
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2016-08-732248
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