Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glukokortikoid-Rezeptor

Das NR3C1-Gen kodiert den Glukokortikoid-Rezeptor. Mutationen sind für die autosomal dominante Glukokortikoidresistenz und erbliche Hypertonusformen verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Glukokortikoid-Resistenz
NR3C1
Glycocorticoid getriggerter Hypertonus
NR3C1

Referenzen:

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2.

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7.

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8.

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9.

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10.

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11.

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13.

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14.

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15.

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27.

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30.

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32.

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33.

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36.

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38.

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41.

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46.

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48.

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50.

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51.

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53.

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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.

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73.

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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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