Factor XIII Deficiency with a Novel Nonsense Mutation

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion, Vol. 36, Issue 3, Pages 588-589, 2020

PMID: 32647443

Factor XIII deficiency is a rare inherited autosomal recessive disorder and occurs at a frequency of approximately 1 in 1–5 million people [1]. During the last 4 decades, over 200 cases of congenital factor XIII (FXIII) deficiency have been reported in the literature [2, 3]. FXIII circulates as a tetramer of two FXIIIA and two FXIIIB subunits.

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