PMID: 23675525

Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1).

PloS one

M Canuel, X Sun, MC Asselin, E Paramithiotis, A Prat, NG Seidah

2013

3 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
19-11221366-C-T	LDLR	c.979C>T	p.His327Tyr	Missense	7/18	-
1-55523127-G-T	PCSK9	c.1120G>T	p.Asp374Tyr	Missense	7/12	-
19-11240230-A-T	LDLR	c.2431A>T	p.Lys811*	Nonsense	17/18	-