PMID: 31332258

Reduced Proprotein convertase subtilisin/kexin 9 (PCSK9) function increases lipoteichoic acid clearance and improves outcomes in Gram positive septic shock patients.

Scientific reports
AKK Leung, KR Genga, E Topchiy, M Cirstea, T Shimada, C Fjell, JA Russell, JH Boyd, KR Walley
2019-07-22

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11227602-C-T LDLR c.1773C>T p.Asn591Asn Synonymous 12/18 -
1-55511995-A-G PCSK9 c.400-201A>G - IntronicSNV - 2/11
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -