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

Abstract Background 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 deficiency is a rare disease. Recently, we identified a Chinese family...

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Main Authors: Jun Deng (Author), Dan Li (Author), Heng Mei (Author), Liang Tang (Author), Hua-fang Wang (Author), Yu Hu (Author)
Format: Book
Published: BMC, 2020-01-01T00:00:00Z.
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3rd Floor Main Library

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