PMID: 28764195

Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.

Journal of clinical and diagnostic research : JCDR
Nuglozeh, Edem E

2 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
17-17720754-CCG-GAT SREBF1 c.1420_1422delCGGinsATC p.R474I Missense 8/19 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -