Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Tuberöse Sklerose 1

Tuberöse Sklerose 1 ist eine autosomal dominante Erkrankung, die durch Mutationen im TSC1-Gen ausgelöst wird. Die Erkrankung ist durch multisystemische Hamartome in Haut, Gehirn, Nieren, Lungen und Herz, welche in unterschiedlichem Alter auftreten, charakterisiert.

Gliederung

Tuberöse Sklerose Komplex
Tuberöse Sklerose 1
TSC1
Tuberöse Sklerose 2

Referenzen:

1.

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2.

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3.

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8.

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9.

Ali JB et al. (1998) Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

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10.

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11.

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12.

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21.

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41.

None (1987) Tuberous sclerosis and ABO.

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42.

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44.

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45.

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46.

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49.

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50.

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51.

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52.

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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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68.

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69.

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70.

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71.

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72.

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74.

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75.

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76.

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77.

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78.

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79.

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80.

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85.

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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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92.

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93.

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94.

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95.

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96.

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97.

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98.

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99.

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100.

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101.

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102.

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103.

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104.

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Update: 14. August 2020
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