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THU149 A Novel Frameshift Mutation (p.H485fs) Of The Ldl Receptor Gene
Disclosure: S. Chang: None. E. Yang: None. C. Kim: None. Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10554526/ http://dx.doi.org/10.1210/jendso/bvad114.1401 |