PMID: 23776359

Genetic screening for homozygous and heterozygous familial hypercholesterolemia.

The application of clinical genetics

MC Izar, VA Machado, FA Fonseca

2010

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	-
2-21229160-C-T	APOB	c.10580G>A	p.Arg3527Gln	Missense	26/29	-