A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report

Factor XIII (FXIII) deficiency is an extremely rare bleeding disorder that is commonly due to mutations in the FXIIIA subunit gene (F13A1), and it has been reported to have a prevalence of one per 2 million. W...

Source: BMC Medical Genetics - September 3, 2020 Category: Genetics & Stem Cells Authors: Ruimin Cai, Yi Li, Wenyang Wang and Qiang Feng Tags: Case report Source Type: research