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 -