PMID: 17608623

Secreted PCSK9 promotes LDL receptor degradation independently of proteolytic activity.

The Biochemical journal
J Li, C Tumanut, JA Gavigan, WJ Huang, EN Hampton, R Tumanut, KF Suen, JW Trauger, G Spraggon, SA Lesley, G Liau, D Yowe, JL Harris
2007-09-01

3 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55523163-T-G PCSK9 c.1156T>G p.Ser386Ala Missense 7/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -