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

BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal-dominant disease leading to markedly elevated low-density lipoprotein (LDL) cholesterol levels and increased risk for premature myocardial infarction (MI). Mutation carriers display variable LDL cholesterol levels, which may obscure the...

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Detaylı Bibliyografya
Yayımlandı:BMC Cardiovasc Disord
Asıl Yazarlar: Brænne, Ingrid, Reiz, Benedikt, Medack, Anja, Kleinecke, Mariana, Fischer, Marcus, Tuna, Salih, Hengstenberg, Christian, Deloukas, Panos, Erdmann, Jeanette, Schunkert, Heribert
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2014
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4243586/
https://ncbi.nlm.nih.gov/pubmed/25154303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2261-14-108
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