PMID: 34652028

LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy.

Journal of clinical laboratory analysis

Hamasaki, Masato M, Sakane, Naoki N, Hara, Kazuo K, Kotani, Kazuhiko K

2021-11

3 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55505604-G-A	PCSK9	c.94G>A	p.E32K	Missense	1/12	-
1-55523127-G-T	PCSK9	c.1120G>T	p.D374Y	Missense	7/12	-
1-55505520-G-A	PCSK9	c.10G>A	p.V4I	Missense	1/12	-