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Novel mutation in coagulation factor VII (Carmel mutation): Identification and characterization

BACKGROUND: Measurement of factor VII (FVII) activity does not enable prediction of bleeding tendency in individuals with inherited FVII deficiency. OBJECTIVE: To characterize the molecular and functional features of FVII in a family with FVII deficiency and correlate them with the bleeding tendency...

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Detalles Bibliográficos
Autores principales: Cassel, Aliza, Rosenberg, Nurit, Muhammad, Emad, Livnat, Tami, Dardik, Rima, Berl, Miriam, Preis, Meir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8117812/
https://www.ncbi.nlm.nih.gov/pubmed/34027285
http://dx.doi.org/10.1002/rth2.12407