Condition: Inherited Factor II deficiency


rs121918477 in F2 gene and Inherited Factor II deficiency PMID 6405779 1983 Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site.

PMID 3801671 1987 Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin.

PMID 3771562 1986 Molecular defect of prothrombin Barcelona. Substitution of cysteine for arginine at residue 273.

PMID 2719946 1989 Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity.

PMID 1354985 1992 Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity.

PMID 1349838 1992 Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the genetic and molecular analysis of dysprothrombinemia.

PMID 14962227 2004 Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly.

PMID 7792730 1995 Prothrombin Frankfurt: a dysfunctional prothrombin characterized by substitution of Glu-466 by Ala.

PMID 3242619 1988 Identification of the primary structural defect in the dysthrombin thrombin Quick I: substitution of cysteine for arginine-382.

PMID 1421398 1992 Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His).

PMID 7865694 1994 Prothrombin Padua I: incomplete activation due to an amino acid substitution at a factor Xa cleavage site.

PMID 3567158 1987 Prothrombin Tokushima, a replacement of arginine-418 by tryptophan that impairs the fibrinogen clotting activity of derived thrombin Tokushima.

PMID 9569177 1998 Geographic distribution of the 20210 G to A prothrombin variant.

PMID 19289024 2009 Thrombophilia: 2009 update.