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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Detalles Bibliográficos
Autores principales: Brænne, Ingrid, Reiz, Benedikt, Medack, Anja, Kleinecke, Mariana, Fischer, Marcus, Tuna, Salih, Hengstenberg, Christian, Deloukas, Panos, Erdmann, Jeanette, Schunkert, Heribert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243586/
https://www.ncbi.nlm.nih.gov/pubmed/25154303
http://dx.doi.org/10.1186/1471-2261-14-108

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