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- W2888610533 abstract "Aim: Familial hypercholesterolaemia (FH) is a hereditary disorder of lipoprotein metabolism predominantly caused by genetic mutation of low-density lipoprotein receptor (LDLR). FH caused rise of total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) which results in increased risk of premature cardiovascular disease (CVD). Currently in our healthcare settings, FH is solely diagnosed based on personal and family clinical history, physical examination and laboratory analysis of LDL level, without incorporating DNA analysis as recommended by the Dutch Lipid Clinic Network (DLCN) criteria. This study aimed to screen a range of FH-related genetic mutations among FH patients by using Next-Generation Sequencing (NGS) method in order to determine their prevalence in Malaysia so a standardized and simpler genetic diagnostic method can be developed in future" @default.
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- W2888610533 date "2018-08-01" @default.
- W2888610533 modified "2023-09-27" @default.
- W2888610533 title "Targeted sequencing as a tool for genetic mutations screening for familial hypercholesterolaemia patients in Malaysian population" @default.
- W2888610533 doi "https://doi.org/10.1016/j.atherosclerosis.2018.06.225" @default.
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