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

2020

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	-