PMID: 31387896

In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family.

Journal of lipid research

Winther, Michael M, Shpitzen, Shoshi S, Yaacov, Or O, Landau, Jakob J, Oren, Limor L, Foroozan-Rosenberg, Linda L, Lev Cohain, Naama N, Schurr, Daniel D, Meiner, Vardiela V, Szalat, Auryan A, Carmi, Shai S, Hayden, Michael R MR, Leitersdorf, Eran E, Durst, Ronen R

2019-10

3 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
4-110638824-C-T	PLA2G12A	c.331G>A	p.D111N	Missense	3/4	-
19-11240282-A-G	LDLR	c.2483A>G	p.Y828C	Missense	17/18	-
1-55518458-CTC-ATG	PCSK9	c.793_795delCTCinsATG	p.L265M	Missense	5/12	-