Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Kongenitale Glykosilierungsstörung 1A

Das Jaeken-Syndrom ist eine autosomal rezessive kongenitale Glykosilierungsstörung vom Typ 1A. Mutationen im PMM2-Gen sind die Ursache.

Gliederung

Kongenitale Glykosilierungsstörung
Gillessen-Kaesbach-Nishimura-Syndrom
Kongenitale Glykosilierungsstörung 1A
PMM2
Kongenitale Glykosilierungsstörung 1L

Referenzen:

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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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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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