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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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
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