Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia
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Title
Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia
Authors
Keywords
Familial hypercholesterolemia, Myocardial infarction, Whole-exome sequencing
Journal
BMC Cardiovascular Disorders
Volume 14, Issue 1, Pages -
Publisher
Springer Nature
Online
2014-08-26
DOI
10.1186/1471-2261-14-108
References
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Related references
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- Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study
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- Dysfunctional nitric oxide signalling increases risk of myocardial infarction
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- Whole Exome Sequencing Identifies a Troponin T Mutation Hot Spot in Familial Dilated Cardiomyopathy
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- Large-scale association analysis identifies new risk loci for coronary artery disease
- (2012) Panos Deloukas et al. NATURE GENETICS
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- (2011) Anne C. Goldberg et al. Journal of Clinical Lipidology
- Guía de la ESC/EAS sobre el manejo de las dislipemias
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- (2011) D. M. Kusters et al. Netherlands Heart Journal
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
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