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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
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Materias: | |
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 |