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
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -