PMID: 30555118

Coronary Artery Plaque Regression by a PCSK9 Antibody and Rosuvastatin in Double-heterozygous Familial Hypercholesterolemia with an LDL Receptor Mutation and a PCSK9 V4I Mutation.

Internal medicine (Tokyo, Japan)

R Shirahama, T Ono, S Nagamatsu, D Sueta, S Takashio, T Chitose, K Fujisue, K Sakamoto, E Yamamoto, Y Izumiya, K Kaikita, S Hokimoto, M Hori, M Harada-Shiba, I Kajiwara, H Ogawa, K Tsujita

2018

3 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55505520-G-A	PCSK9	c.10G>A	p.Val4Ile	Missense	1/12	-
1-55505604-G-A	PCSK9	c.94G>A	p.Glu32Lys	Missense	1/12	-
19-11226838-AT-A	LDLR	c.1655delT	p.Ile552Thrfs*5	Frameshift	11/18	-