Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hereditäres Angioödem 2

Das hereditäres Angioödem Typ 2 ist eine autosomal dominante Erkrankung die durch Missense-Mutationen im SERPING1-Gen (vormals C1NH) hervorgerufen wird. Das klinische Bild besteht in intermittierenden lokal begrenzten Ödemen der Subkutis und der Submukosa. Letztere vor allem im oberen Altmungs- und Verdauungstrakt.

Gliederung

Hereditäres Angioödem
Hereditäres Angioödem 1
Hereditäres Angioödem 2
SERPING1
Hereditäres Angioödem 3

Referenzen:

1.

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2.

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3.

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4.

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39.

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40.

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41.

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43.

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45.

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46.

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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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64.

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65.

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67.

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