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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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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Hawke, Lindsey, Bowman, Mackenzie L., Poon, Man-Chiu, Scully, Mary-Frances, Rivard, Georges-Etienne, James, Paula D.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2016
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Acesso em linha: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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