Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Dysfibrinogenemie

Die Dysfibrinogenemie is eine autosomal dominante oder rezessive Erkrankung, die durch eine Fehlfunktion des des Fibrinogens hervorgerufen wird. Diese Fehlfunktion kann sich sowohl in einer Hyperkoagulabilität mit Thromboseneigung, wie auch durch eine erhöhte Blutungsbereitsschaft äußern.

Gliederung

Erbliche Blutungsübel
Afibrinogenämie
Dysfibrinogenemie
FGA
FGB
FGG
Faktor XII-Mangel
Faktor XIII A-Mangel
Faktor XIII B-Mangel
Plasminogen-Aktivator-Inhibitor-Mangel
Störungen des Vitamin K-Stoffwechsels

Referenzen:

1.

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2.

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3.

Neerman-Arbez M et al. (1999) The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster.

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4.

Neerman-Arbez M et al. (2000) Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia.

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5.

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6.

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7.

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8.

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9.

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10.

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14.

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15.

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16.

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17.

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19.

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20.

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21.

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22.

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23.

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24.

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25.

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26.

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28.

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29.

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30.

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31.

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32.

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33.

Ebert RF et al. (1986) Fibrinogen Seattle II: congenital dysfibrinogenemia with an Arg (A alpha 16)----his substitution.

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34.

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35.

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36.

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37.

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38.

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39.

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40.

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41.

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42.

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43.

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44.

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45.

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46.

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47.

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48.

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49.

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50.

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51.

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52.

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53.

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54.

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55.

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56.

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57.

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58.

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59.

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60.

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61.

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62.

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63.

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64.

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65.

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66.

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67.

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68.

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69.

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70.

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71.

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72.

Higgins DL et al. (1981) Fibrinogen Petoskey, a dysfibrinogenemia characterized by replacement of Arg-A alpha 16 by a histidyl residue. Evidence for thrombin-catalyzed hydrolysis at a histidyl residue.

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73.

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74.

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75.

Suh TT et al. (1995) Resolution of spontaneous bleeding events but failure of pregnancy in fibrinogen-deficient mice.

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76.

Thomas A et al. (1994) Linkage disequilibrium across the fibrinogen locus as shown by five genetic polymorphisms, G/A-455 (HaeIII), C/T-148 (HindIII/AluI), T/G+1689 (AvaII), and BclI (beta-fibrinogen) and TaqI (alpha-fibrinogen), and their detection by PCR.

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77.

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78.

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79.

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80.

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81.

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82.

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83.

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84.

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85.

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86.

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87.

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88.

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89.

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90.

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91.

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