PMID: 31932084

Efficacy and Safety of Alirocumab in Patients With Autosomal Dominant Hypercholesterolemia Associated With Proprotein Convertase Subtilisin/Kexin Type 9 Gain-of-Function or Apolipoprotein B Loss-of-Function Mutations.

The American journal of cardiology
M Krempf, PN Hopkins, E Bruckert, S Lee, S Donahue
2020-03-15

4 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509631-T-G PCSK9 c.323T>G p.Leu108Arg Missense 2/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -