BLOOD COAGULATION & FIBRINOLYSIS, vol.29, no.5, pp.476-480, 2018 (SCI-Expanded)
Article / Article
BLOOD COAGULATION & FIBRINOLYSIS
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Karadeniz Technical University Affiliated:
ObjectiveHerein, a neonate with congenital FVII deficiency is presented.Basic methodDiagnosis of congenital FVII deficiency was confirmed by genetic analysis using next-generation sequencing method (MiSeq-Illumina).ResultOur patient was found to have a novel homozygous mutation.ConclusionEarly diagnosis and treatment of congenital FVII deficiency can be crucial.