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PCSK9

MIM.607786 1p34.1-p32

Sunday 3 April 2005

PCSK9 is encoding a putative proprotein convertase.

Pathology

- mutations in autosomal dominant familial hypercholesterolaemia (HCHOLA3) (MIM.603776)

- variants in plasma levels of low density lipoprotein (LDL) cholesterol

References

- Kotowski IK, Pertsemlidis A, Luke A, Cooper RS, Vega GL, Cohen JC, Hobbs HH. A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol. Am J Hum Genet. 2006 Mar;78(3):410-22. PMID: 16465619