Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency

Coagulation factor XIII (FXIII) plays an essential role in maintaining hemostasis by crosslinking fibrin. Deficiency in FXIII affects clot stability and increases the risk of severe bleeding. Congenital FXIII ...

Source: BMC Medical Genetics - January 8, 2020 Category: Genetics & Stem Cells Authors: Jun Deng, Dan Li, Heng Mei, Liang Tang, Hua-fang Wang and Yu Hu Tags: Research article Source Type: research