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- W2964668175 abstract "Background and Aims: Familial hypercholesterolemia (FH) is a common genetic disorder in most cases caused by mutations of the LDL-receptor gene (LDLR). FH is characterized by severely elevated LDL cholesterol levels that lead to atherosclerosis leading to an increased risk for cardiovascular disease." @default.
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- W2964668175 date "2019-08-01" @default.
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- W2964668175 title "Identification Of A De Novo Large Deletion In Ldl Receptor Gene In A Patient With Hypercholesterolemia Using Multiplex Ligation-Dependent Probe Amplification (Mlpa)" @default.
- W2964668175 doi "https://doi.org/10.1016/j.atherosclerosis.2019.06.664" @default.
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