PCSK9
MIM.607786 1p34.1-p32
PCSK9 is encoding a putative proprotein convertase.
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#
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