Article
Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2015
Jang Mi-Ae, Park Young Shil, Lee Ki-O, Kim Hee-Jin
Abstract excerpt
Congenital factor XIII (FXIII) deficiency is a rare autosomal recessive bleeding disorder mainly caused by mutations in the F13A1 gene on 6p25.1, which lead to defective A subunit of FXIII. We herein describe two unrelated Korean patients with congenital FXIII deficiency. Proband 1 (a 30-year-old man) and Proband 2 (a 10-year-old girl) presented with severe bleeding episodes (huge intramuscular hematoma and acute...
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