PMID: 25154303

Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.

BMC cardiovascular disorders
I Brænne, B Reiz, A Medack, M Kleinecke, M Fischer, S Tuna, C Hengstenberg, P Deloukas, J Erdmann, H Schunkert,
2014-08-26

1 variant was identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11224210-G-A LDLR c.1359-1G>A - IntronicSNV - 9/17