Factor VII deficiency: a novel missense variant and genotype–phenotype correlation in patients from Southern Italy

This study aimed at attempting to correlate genotype and phenotype in factor VII deficiency. Here, we present molecular and clinical findings of 10 patients with factor VII deficiency. From 2013 to 2016, 10 subjects were referred to our center because of a prolonged prothrombin time identified durin...

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Bibliographische Detailangaben
Veröffentlicht in:Hum Genome Var
Hauptverfasser: Tiscia, Giovanni, Favuzzi, Giovanni, Chinni, Elena, Colaizzo, Donatella, Fischetti, Lucia, Intrieri, Mariano, Margaglione, Maurizio, Grandone, Elvira
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5667183/
https://ncbi.nlm.nih.gov/pubmed/29104756
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.48
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