PMID: 27284008

Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Single Domain Antibodies Are Potent Inhibitors of Low Density Lipoprotein Receptor Degradation.

The Journal of biological chemistry
E Weider, D Susan-Resiga, R Essalmani, J Hamelin, MC Asselin, S Nimesh, Y Ashraf, KL Wycoff, J Zhang, A Prat, NG Seidah
2016-08-05

4 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-184101353-CT-TA CHRD c.1363_1364delCTinsTA p.Leu455* Nonsense 12/23 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -