Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype–phenotype relationship

Congenital Factor XI (FXI) deficiency shows a high variability in clinical phenotype. To date, many allele variants have been shown to cause this bleeding disorder. However, the genotype–phenotype relationship is difficult to establish. This report provides insights into this bleeding disorder. Sixt...

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Detalles Bibliográficos
Autores principales: Tiscia, Giovanni L, Favuzzi, Giovanni, Lupone, Maria R, Cappucci, Filomena, Schiavulli, Michele, Mirabelli, Valentina, D’Andrea, Giovanna, Chinni, Elena, Giuliani, Nicola, Caliandro, Rocco, Grandone, Elvira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678205/
https://www.ncbi.nlm.nih.gov/pubmed/29138690
http://dx.doi.org/10.1038/hgv.2017.43

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