Article
Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function.
British journal of haematology - 1 Nov 1995
Anwar R, Stewart A D, Miloszewski K J, Losowsky M S, Markham A F
Abstract excerpt
Factor XIII (FXIII) is a zymogen essential for normal haemostasis. In inherited FXIII deficiency the majority of cases show absence of the FXIIIa subunit. Molecular analysis of PCR-amplified FXIIIa subunit exonic regions, and of RT-PCR amplified cDNA from six patients with FXIIIa subunit deficiency, from five unrelated families, has revealed 10 sequence changes: three mutations resulting in abnormal splicing of...
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