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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5678205/
https://ncbi.nlm.nih.gov/pubmed/29138690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.43
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