Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Somatomedin C

Das IGF1-Gen kodiert ein Zytokin den Insulin-ähnlichen Wachstumsfaktor 1 der für die Vermittlung der Wachstumshormonwirkung in verschiedenen Geweben verantwortlich ist. Mutationen sind für die autosomal rezessive Erkrankung des IGF1-Mangels verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
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:

Insulinähnlicher Wachtumsfaktor 1 Mangel
IGF1

Referenzen:

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2.

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4.

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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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54.

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61.

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62.

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63.

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64.

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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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