Article
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.
Blood transfusion = Trasfusione del sangue - 1 Jan 2018
Colakoglu Seyma, Bayhan Turan, Tavil Betül, Keskin Ebru Yılmaz, Cakir Volkan, Gümrük Fatma, Çetin Mualla, Aytaç Selin, Berber Ergul
Abstract excerpt
BACKGROUND: Factor XI (FXI) deficiency is an autosomal bleeding disease associated with genetic defects in the F11 gene which cause decreased FXI levels or impaired FXI function. An increasing number of mutations has been reported in the FXI mutation database, most of which affect the serine protease domain of the protein. FXI is a heterogeneous disorder associated with a variable bleeding tendency and a variety...
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