Evaluation of the role of STAP1 in Familial Hypercholesterolemia
Author:
Funder
Bundesministerium für Bildung und Forschung
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-48402-y.pdf
Reference37 articles.
1. Nordestgaard, B. G. et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 34, 3478–3490a, https://doi.org/10.1093/eurheartj/eht273 (2013).
2. Benn, M., Watts, G. F., Tybjaerg-Hansen, A. & Nordestgaard, B. G. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J 37, 1384–1394, https://doi.org/10.1093/eurheartj/ehw028 (2016).
3. Do, R. et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature 518, 102–106, https://doi.org/10.1038/nature13917 (2015).
4. Defesche, J. C. et al. Familial hypercholesterolaemia. Nat Rev Dis Primers 3, 17093, https://doi.org/10.1038/nrdp.2017.93 (2017).
5. Goldstein, J. L. & Brown, M. S. Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem 249, 5153–5162 (1974).
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