Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate

KADER, ŞEBNEM; MUTLU, MEHMET; Acar, FİLİZ; ASLAN, YAKUP; BAHADIR, AYŞENUR

doi:10.1097/mbc.0000000000000748

Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate

KADER Ş., MUTLU M., Acar F., ASLAN Y., BAHADIR A.

BLOOD COAGULATION & FIBRINOLYSIS, sa.5, ss.476-480, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Basım Tarihi: 2018
Doi Numarası: 10.1097/mbc.0000000000000748
Dergi Adı: BLOOD COAGULATION & FIBRINOLYSIS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.476-480
Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

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.