Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Autosomal dominante Hypercholesterinämie 1

Autosomal dominante Hypercholesterinämie 1 wird durch Mutationen im LDL-Rezeptor-Gen hervorgerufen. Patienten die zwei mutierte Allele tragen zeigen eine ganz massive LDL-Erhöhung.

Gliederung

Hypercholesterinämie
Autosomal dominante Hypercholesterinämie 1
LDLR
Autosomal dominante Hypercholesterinämie 2
Autosomal dominante Hypercholesterinämie 3
Autosomal rezessive Hypercholesterinämie
Lp(a) Hyperlipoproteinämie
Veranlagung für hohes LDL-Cholesterin

Referenzen:

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