title: An electrophoretic and quantitative analysis of coagulation factor XIII in normal and deficient subjects.
abstract: Previous electrophoretic studies of the A and B subunits of factor XIII have revealed considerably genetic heterogeneity. The present work investigates the electrophoretic forms and quantitates the A and B subunits in a family with inherited factor XIII deficiency. The data indicate that the deficiency in this family is due to a null allele at the locus controlling the A subunit. All family members were found to have decreased levels of B subunit. The data also indicate that there is no difference in thrombin activated transamidase activity between normal individuals with the three commonly occurring electrophoretic phenotypes of the A subunit.
mesh_terms: D000483:Alleles; D000581:Amidohydrolases / Q000097:blood; D004587:Electrophoresis, Agar Gel; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype
chemical_list: D005176:Factor XIII; D000581:Amidohydrolases