Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism

Approximately 10% of von Willebrand factor (VWF) gene mutations are thought to alter messenger RNA (mRNA) splicing through disruption of consensus splice sites. This mechanism is likely underrecognized and affected by mutations outside consensus splice sites. During VWF synthesis, splicing abnormali...

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Vydáno v:Blood
Hlavní autoři: Hawke, Lindsey, Bowman, Mackenzie L., Poon, Man-Chiu, Scully, Mary-Frances, Rivard, Georges-Etienne, James, Paula D.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Hematology 2016
Témata:
Thrombosis and Hemostasis
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4965908/
https://ncbi.nlm.nih.gov/pubmed/27317792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-10-678052
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