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autosomal dominant hypercholesterolemia 3
Genetics:
1) autosomal dominant
2) mutation in proprotein convertase PC9 gene (PCSK9)
Laboratory:
- lipid panel: very high LDL cholesterol
Related
proprotein convertase subtilisin/kexin type 9; neural apoptosis-regulated convertase 1; NARC-1; Proprotein convertase 9; PC9; subtilisin/kexin-like protease PC9 (PCSK9 NARC1 PSEC0052)
General
familial hyperliproteinemia, other
hypercholesterolemia
Database Correlations
OMIM 603776
References
OMIM :accession 603776