PMID: 28549500

Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Atherosclerosis
M Sharifi, E Higginson, S Bos, A Gallivan, D Harvey, KW Li, A Abeysekera, A Haddon, H Ashby, KE Shipman, JA Cooper, M Futema, JE Roeters van Lennep, EJG Sijbrands, M Labib, D Nair, SE Humphries
2017-08

7 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12