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Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia
BACKGROUND: Familial hypercholesterolemia (FH) is a common but underdiagnosed genetic disorder characterized by high low-density lipoprotein cholesterol levels and premature cardiovascular disease. Current sequencing methods to diagnose FH are expensive and time-consuming. In this study, we evaluate...
Autores principales: | Ibrahim, Shirin, van Rooij, Jeroen, Verkerk, Annemieke J.M.H., de Vries, Jard, Zuurbier, Linda, Defesche, Joep, Peter, Jorge, Schonck, Willemijn A.M., Sedaghati-Khayat, Bahar, Kees Hovingh, G., Uitterlinden, André G., Stroes, Erik S.G., Reeskamp, Laurens F. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10581440/ https://www.ncbi.nlm.nih.gov/pubmed/37675602 http://dx.doi.org/10.1161/CIRCGEN.123.004103 |
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