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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Tiscia, Giovanni, Favuzzi, Giovanni, Chinni, Elena, Colaizzo, Donatella, Fischetti, Lucia, Intrieri, Mariano, Margaglione, Maurizio, Grandone, Elvira
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2017
Pynciau:
Article
Mynediad Ar-lein: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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