PMID: 19020338

PCSK9: a convertase that coordinates LDL catabolism.

Journal of lipid research
JD Horton, JC Cohen, HH Hobbs

3 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
19-11216226-G-A LDLR c.644G>A p.Arg215His Missense 4/18 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -