Faktor XIII A-Mangel

Kera Y et al. (1981) Genetic polymorphism of the B subunit of human coagulation factor XIII: another classification.

Kangsadalampai S et al. (1999) Identification and characterization of two missense mutations causing factor XIIIA deficiency.

Ichinose A et al. (2000) Molecular and genetic mechanisms of factor XIII A subunit deficiency.

Souri M et al. (2001) Novel Y283C mutation of the A subunit for coagulation factor XIII: molecular modelling predicts its impaired protein folding and dimer formation.

Francis JL et al. (1979) Factor XIII deficiency. A family study by measurement of factor XIII subunits A and S.

Birben E et al. (2002) Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion.

Lauer P et al. (2002) Targeted inactivation of the mouse locus encoding coagulation factor XIII-A: hemostatic abnormalities in mutant mice and characterization of the coagulation deficit.

Board P et al. (1992) Identification of a point mutation in factor XIII A subunit deficiency.

DUCKERT F et al. (1960) A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency.

Kamura T et al. (1992) Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III.

Anwar R et al. (2009) The Arg703Trp missense mutation in F13A1 is a de novo event.

Board PG et al. (1988) Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects.

Lorand L et al. (1988) Autoimmune antibody (IgG Kansas) against the fibrin stabilizing factor (factor XIII) system.

Frydman M et al. (1986) Male fertility in factor XIII deficiency.

Girolami A et al. (1985) Congenital factor XIII deficiency: type I and type II disease.

Girolami A et al. (1977) Congenital deficiency of factor XIII with normal subunit S and lack of subunit A. Report of a new family.

Ratnoff OD et al. (1968) Inheritance of fibrin-stabilising-factor deficiency.

Israels ED et al. (1973) Immunological studies of coagulation factor XIII.

Aguercif M et al. () [Congenital deficiency of fibrin stabilizing activity. Presence of a protein immunologically analogous to factor XIII].

McDonagh J et al. (1974) Factor XIII deficiency: a genetic study of two affected kindreds in Finland.

Kitchens CS et al. (1979) Factor XIII.

McDonagh J et al. (1971) Genetic aspects of factor XIII deficiency.

Lorand L et al. (1970) Inheritance of deficiency of fibrin-stabilizing factor (factor 13).

Steinberg AG et al. (1970) Inheritance of factor XIII.

None (1969) Congenital deficiency of fibrin-stabilizing factor. Report of a case and family study.

Amris CJ et al. (1965) A case of fibrin-stabilizing factor (FSF) deficiency.

Fisher S et al. (1966) Factor 13 deficiency with severe hemorrhagic diathesis.

None (1967) Congenital deficiency of factor 13 (fibrin-stabilizing factor): Report of a case and review of the literature.

Barbui T et al. (1978) Subunits A and S inheritance in four families with congenital factor XIII deficiency.

Berliner S et al. (1984) Hereditary factor XIII deficiency: report of four families and definition of the carrier state.

Fried K et al. (1981) Factor XIII deficiency.

Coggan M et al. (1995) Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast.

Standen GR et al. (1993) Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency.

Ichinose A et al. (1996) The normal and abnormal genes of the a and b subunits in coagulation factor XIII.

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