Condition: Factor XIII, B Subunit, Deficiency Of
rs121913075 in
F13B gene and
Factor XIII, B Subunit, Deficiency Of
PMID 8324218 1993 Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.
PMID 26247044 2015 Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants.
PMID 11313256 2001 Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.
PMID 20331752 2010 Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency.