PMID: 28405938

Genetic Architecture of Familial Hypercholesterolaemia.

Current cardiology reports
Sharifi, Mahtab M, Futema, Marta M, Nair, Devaki D, Humphries, Steve E SE
2017-05

4 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-45412048-GCTC-G APOE c.500_502delTCC p.L167del InFrameDeletion 4/4 -
2-21224811-ACTG-A APOB c.13480_13482delCAG p.Q4494del InFrameDeletion 29/29 -
2-21265322-G-A APOB c.148C>T p.R50W Missense 3/29 -
2-21238259-C-G APOB c.3491G>C p.R1164T Missense 22/29 -