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Clinical phenotypes and factor VII genotype in congenital factor VII deficiency
Thrombosis and Haemostasis, 2005SummaryTo investigate the relationship between clinical phenotype, clotting activity (FVIIc) and FVII genotype, a multi-center study of factor VII (FVII) congenital deficiency with centralized genotyping and specific functional assays was carried out. FVII mutations characterized in patients (n=313) were extremely heterogeneous (103 different, 22 novel)
MARIANI G +11 more
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Congenital Combined Factor VII and Factor VIII Deficiency
Acta Haematologica, 1980This paper describes two family members who have a combined hereditary deficiency of factors VII and VIII. The propositus, a 16-year-old male, presented with recurrent gastrointestinal bleeding. He and his mother had moderate defects of factors VII and VIII. The propositus received factor VIII cover, during and after a laparatomy.
S J, Machin, B R, Miller
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Open heart surgery with factor VII deficiency.
The Journal of cardiovascular surgery, 1983A case with marked factor VII deficiency, undergoing open heart surgery for atrial myxoma, is reported. The syndrome was unknown to the patient and only pre-operative routine coagulation studies showed a low prothrombin activity (22%). Further investigations revealed a severe factor VII deficiency.
Gagliardi C +4 more
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Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child
Nature Medicine, 2021Masato Ogishi, Rui Yang, Caner Aytekin
exaly
Poly(ADP-Ribose) polymerase (PARP) inhibitors: Exploiting a synthetic lethal strategy in the clinic
Ca-A Cancer Journal for Clinicians, 2011Timothy A Yap, Johann Sebastian de Bono
exaly