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
E Nuglozeh
2017-06

4 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 -
17-17720754-CCG-ATC SREBF1 c.1420_1422delCGGinsATC p.Arg474Ile Missense 8/19 -
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -