The duplication mutation of Quebec platelet disorder dysregulates PLAU, but not C10orf55, selectively increasing production of normal PLAU transcripts by megakaryocytes but not granulocytes

Quebec Platelet disorder (QPD) is a unique bleeding disorder that markedly increases urokinase plasminogen activator (uPA) in megakaryocytes and platelets but not in plasma or urine. The cause is tandem duplication of a 78 kb region of chromosome 10 containing PLAU (the uPA gene) and C10orf55, a gen...

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Detalles Bibliográficos
Autores principales: Hayward, Catherine P. M., Liang, Minggao, Tasneem, Subia, Soomro, Asim, Waye, John S., Paterson, Andrew D., Rivard, Georges E., Wilson, Michael D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5354430/
https://www.ncbi.nlm.nih.gov/pubmed/28301587
http://dx.doi.org/10.1371/journal.pone.0173991

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