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Identification and characterization of two missense mutations causing factor XIIIA deficiency

Kangsadalampai, S; Chelvanayagam, Gareth; Baker, Rohan; Kuperan, Ponnudarai; Board, Philip


In this study, two amino acid substitutions. Arg260His and Val414Phe, have been identified in the factor XIIIA subunits of factor XIII deficient patients of Syrian and Indian descent, respectively. To confirm the deleterious effects of these substitutions, both variant sequences have been engineered into cDNA clones and the mutant enzymes expressed in yeast. Determination of the transglutaminase activity and immuno detection of the mutant enzymes together with mRNA hybridization revealed that...[Show more]

CollectionsANU Research Publications
Date published: 1999
Type: Journal article
Source: British Journal of Haematology
DOI: 10.1046/j.1365-2141.1999.01145.x


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