PMID: 28549500

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

Atherosclerosis
Sharifi, Mahtab M, Higginson, Elizabeth E, Bos, Sven S, Gallivan, Angela A, Harvey, Darren D, Li, Ka Wah KW, Abeysekera, Amali A, Haddon, Angela A, Ashby, Helen H, Shipman, Kate E KE, Cooper, Jackie A JA, Futema, Marta M, Roeters van Lennep, Jeanine E JE, Sijbrands, Eric J G EJG, Labib, Mourad M, Nair, Devaki D, Humphries, Steve E SE
2017-08

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
1-109818306-G-T CELSR2 c.*1635G>T - 3-UTRSNV 34/34 -
2-21263900-G-A APOB c.293C>T p.T98I Missense 4/29 -