PMID: 30593551

Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol.

BMJ open
A Nomura, H Tada, H Okada, A Nohara, H Ishikawa, K Yoshimura, MA Kawashiri

2 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505604-G-A PCSK9 c.94G>A p.Glu32Lys Missense 1/12 -
1-55505520-G-A PCSK9 c.10G>A p.Val4Ile Missense 1/12 -