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Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France)

BACKGROUND: Constitutional deficiency in Factor XI (FXI) is a rare bleeding disorder in the general population, with the exception of Ashkenazi Jews. During the last decade, the detection of FXI-deficient patients has shifted from clinical screening identifying mostly severe bleeders to biological s...

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Detalhes bibliográficos
Main Authors: Guéguen, Paul, Chauvin, Angélique, Quémener-Redon, Sylvia, Pan-Petesch, Brigitte, Férec, Claude, Abgrall, Jean-François, Le Maréchal, Cédric
Formato: Artigo
Idioma:Inglês
Publicado em: Schattauer 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3399784/
https://ncbi.nlm.nih.gov/pubmed/22159456
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1160/TH11-06-0415
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