Condition: Dysfibrinogenemia, Congenital


rs121909606 in FGA gene and Dysfibrinogenemia, Congenital PMID 8473507 1993 Molecular basis for fibrinogen Dusart (A alpha 554 Arg-->Cys) and its association with abnormal fibrin polymerization and thrombophilia.

PMID 16846481 2006 The fibrinogen Aalpha R16C mutation results in fibrinolytic resistance.

rs121909620 in FGB gene and Dysfibrinogenemia, Congenital PMID 1634610 1992 Molecular basis of fibrinogen Naples associated with defective thrombin binding and thrombophilia. Homozygous substitution of B beta 68 Ala----Thr.

rs121913088 in FGG gene and Dysfibrinogenemia, Congenital PMID 2257302 1990 Fibrinogen Baltimore I: polymerization defect associated with a gamma 292Gly----Val (GGC----GTC) mutation.

PMID 2976995 1988 "Normal plasmic cleavage of the gamma-chain variant of ""fibrinogen Saga"" with an Arg-275 to His substitution."

PMID 3708159 1986 Characterization of fibrinogen Milano I: amino acid exchange gamma 330 Asp----Val impairs fibrin polymerization.

PMID 15632207 2005 Fibrinogen Philadelphia, a hypodysfibrinogenemia characterized by abnormal polymerization and fibrinogen hypercatabolism due to gamma S378P mutation.