PMID: 26374825

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular genetics

PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold

2015-12

12 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
1-55518081-A-C	PCSK9	c.654A>C	p.Arg218Ser	Missense	4/12	-
1-55523127-G-T	PCSK9	c.1120G>T	p.Asp374Tyr	Missense	7/12	-
1-55518081-A-T	PCSK9	c.654A>T	p.Arg218Ser	Missense	4/12	-
20-3063392-T-G	AVP	c.379A>C	p.Ser127Arg	Missense	3/3	-
1-55518073-T-C	PCSK9	c.646T>C	p.Phe216Leu	Missense	4/12	-
2-21229160-C-T	APOB	c.10580G>A	p.Arg3527Gln	Missense	26/29	-
20-3063390-G-T	AVP	c.381C>A	p.Ser127Arg	Missense	3/3	-
1-55509631-T-G	PCSK9	c.323T>G	p.Leu108Arg	Missense	2/12	-
20-3063390-G-C	AVP	c.381C>G	p.Ser127Arg	Missense	3/3	-
1-55505604-G-A	PCSK9	c.94G>A	p.Glu32Lys	Missense	1/12	-
1-55518071-G-A	PCSK9	c.644G>A	p.Arg215His	Missense	4/12	-
1-55524211-C-T	PCSK9	c.1394C>T	p.Ser465Leu	Missense	9/12	-