PMID: 26085104

Amyloid Precursor-like Protein 2 and Sortilin Do Not Regulate the PCSK9 Convertase-mediated Low Density Lipoprotein Receptor Degradation but Interact with Each Other.

The Journal of biological chemistry

C Butkinaree, M Canuel, R Essalmani, S Poirier, S Benjannet, MC Asselin, A Roubtsova, J Hamelin, J Marcinkiewicz, A Chamberland, J Guillemot, G Mayer, SS Sisodia, Y Jacob, A Prat, NG Seidah

2015-07-24

2 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
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	-