Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Faktor XIII A-Mangel

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.

Gliederung

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

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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.

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5.

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

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6.

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

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7.

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.

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

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

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20.

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

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21.

Kitchens CS et al. (1979) Factor XIII.

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22.

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

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23.

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

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24.

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

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25.

Zahir M et al. (1969) Congenital deficiency of fibrin-stabilizing factor. Report of a case and family study.

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26.

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

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27.

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

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28.

Britten AF et al. (1967) Congenital deficiency of factor 13 (fibrin-stabilizing factor): Report of a case and review of the literature.

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29.

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

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30.

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

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31.

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

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32.

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

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33.

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

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34.

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

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