Functionality of sequence variants in th
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Roeland Huijgen; Iris Kindt; Sigrid W. Fouchier; Joep C. Defesche; Barbara A. Hu
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Article
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2010
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John Wiley and Sons
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English
โ 152 KB
Patients with familial hypercholesterolemia (FH) have elevated LDL-C levels, usually above the 90th percentile (P90) for age and gender. However, large-scale genetic cascade screening for FH showed that 15% of the LDL-receptor (LDLR) or Apolipoprotein B (APOB) mutation carriers have LDL-C levels bel