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	-
19-11202306-G-T	LDLR	c.67+2015G>T	-	IntronicSNV	-	1/17
1-109818306-G-T	CELSR2	c.*1635G>T	-	3-UTRSNV	34/34	-
1-55523127-G-T	PCSK9	c.1120G>T	p.Asp374Tyr	Missense	7/12	-
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