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Titel:

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

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Brænne, Ingrid; Reiz, Benedikt; Medack, Anja; Kleinecke, Mariana; Fischer, Marcus; Tuna, Salih; Hengstenberg, Christian; Deloukas, Panos; Erdmann, Jeanette; Schunkert, Heribert
Abstract:
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 diagnosis. We examined by whole-exome sequencing a family in which multiple myocardial infarctions occurred at a young age with unclear etiology.Whole-exome sequencing of three affected family members, validation...     »
Zeitschriftentitel:
BMC Cardiovasc Disord
Jahr:
2014
Band / Volume:
14
Seitenangaben Beitrag:
108
Sprache:
eng
Volltext / DOI:
doi:10.1186/1471-2261-14-108
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/25154303
Print-ISSN:
1471-2261
TUM Einrichtung:
Klinik für Herz- und Kreislauferkrankungen im Erwachsenenalter (Prof. Schunkert)
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