Factor 13A-Mangel ist eine autosomal rezessive Erkrankung, welche durch Mutationen des F13A1-Gens ausgelöst wird. Charakterisiert ist die Erkrankung biochemisch durch niedrige Plasmaspiegel oder nicht aktivem Faktor XIII und klinisch durch eine Blutungsneigung oder verzögerte Wundheilung.
Erbliche Blutungsübel | ||||
Afibrinogenämie | ||||
Dysfibrinogenemie | ||||
Faktor XII-Mangel | ||||
Faktor XIII A-Mangel | ||||
F13A1 | ||||
Faktor XIII B-Mangel | ||||
Plasminogen-Aktivator-Inhibitor-Mangel | ||||
Störungen des Vitamin K-Stoffwechsels | ||||
1. |
Fisher S et al. (1966) Factor 13 deficiency with severe hemorrhagic diathesis. |
2. |
Aguercif M et al. () [Congenital deficiency of fibrin stabilizing activity. Presence of a protein immunologically analogous to factor XIII]. |
3. |
McDonagh J et al. (1974) Factor XIII deficiency: a genetic study of two affected kindreds in Finland. |
4. |
Kitchens CS et al. (1979) Factor XIII. |
5. |
McDonagh J et al. (1971) Genetic aspects of factor XIII deficiency. |
6. |
Lorand L et al. (1970) Inheritance of deficiency of fibrin-stabilizing factor (factor 13). |
7. |
Steinberg AG et al. (1970) Inheritance of factor XIII. |
8. |
None (1969) Congenital deficiency of fibrin-stabilizing factor. Report of a case and family study. |
9. |
Amris CJ et al. (1965) A case of fibrin-stabilizing factor (FSF) deficiency. |
10. |
Kangsadalampai S et al. (1999) Identification and characterization of two missense mutations causing factor XIIIA deficiency. |
11. |
None (1967) Congenital deficiency of factor 13 (fibrin-stabilizing factor): Report of a case and review of the literature. |
12. |
Barbui T et al. (1978) Subunits A and S inheritance in four families with congenital factor XIII deficiency. |
13. |
Berliner S et al. (1984) Hereditary factor XIII deficiency: report of four families and definition of the carrier state. |
14. |
Fried K et al. (1981) Factor XIII deficiency. |
15. |
Coggan M et al. (1995) Mutations causing coagulation factor XIII subunit A deficiency: characterization of the mutant proteins after expression in yeast. |
16. |
Standen GR et al. (1993) Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. |
17. |
Ichinose A et al. (1996) The normal and abnormal genes of the a and b subunits in coagulation factor XIII. |
18. |
Ratnoff OD et al. (1968) Inheritance of fibrin-stabilising-factor deficiency. |
19. |
Kera Y et al. (1981) Genetic polymorphism of the B subunit of human coagulation factor XIII: another classification. |
20. |
Ichinose A et al. (2000) Molecular and genetic mechanisms of factor XIII A subunit deficiency. |
21. |
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. |
22. |
Francis JL et al. (1979) Factor XIII deficiency. A family study by measurement of factor XIII subunits A and S. |
23. |
Birben E et al. (2002) Mutations in coagulation factor XIII A gene in three Turkish patients: two novel mutations and a known insertion. |
24. |
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. |
25. |
Board P et al. (1992) Identification of a point mutation in factor XIII A subunit deficiency. |
26. |
DUCKERT F et al. (1960) A hitherto undescribed congenital haemorrhagic diathesis probably due to fibrin stabilizing factor deficiency. |
27. |
Kamura T et al. (1992) Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III. |
28. |
Anwar R et al. (2009) The Arg703Trp missense mutation in F13A1 is a de novo event. |
29. |
Board PG et al. (1988) Haplotypes of the coagulation factor XIII A subunit locus in normal and deficient subjects. |
30. |
Lorand L et al. (1988) Autoimmune antibody (IgG Kansas) against the fibrin stabilizing factor (factor XIII) system. |
31. |
Frydman M et al. (1986) Male fertility in factor XIII deficiency. |
32. |
Girolami A et al. (1985) Congenital factor XIII deficiency: type I and type II disease. |
33. |
Girolami A et al. (1977) Congenital deficiency of factor XIII with normal subunit S and lack of subunit A. Report of a new family. |
34. |
Israels ED et al. (1973) Immunological studies of coagulation factor XIII. |
35. |
OMIM.ORG article Omim 613225 |