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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Genome Var
Egile Nagusiak: Tiscia, Giovanni, Favuzzi, Giovanni, Chinni, Elena, Colaizzo, Donatella, Fischetti, Lucia, Intrieri, Mariano, Margaglione, Maurizio, Grandone, Elvira
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2017
Gaiak:
Article
Sarrera elektronikoa: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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