PMID: 32922439

Genetics, Screening, and Treatment of Familial Hypercholesterolemia: Experience Gained From the Implementation of the Vietnam Familial Hypercholesterolemia Registry.

Frontiers in genetics
Truong, Thanh-Huong TH, Do, Doan-Loi DL, Kim, Ngoc-Thanh NT, Nguyen, Mai-Ngoc Thi MT, Le, Thanh-Tung TT, Le, Hong-An HA

3 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
19-11216263-C-G LDLR c.681C>G p.D227E Missense 4/18 -
1-55505552-A-ATG PCSK9 c.42_43insTG p.L15Cfs*30 Frameshift 1/12 -
19-11224279-C-G LDLR c.1427C>G p.P476R Missense 10/18 -