Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.

@article{Tai2001CompoundHF,
  title={Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.},
  author={E. Tai and E. Koay and E. Chan and T. J. Seng and L. Loh and S. Sethi and C. E. Tan},
  journal={Clinical chemistry},
  year={2001},
  volume={47 3},
  pages={
          438-43
        }
}
BACKGROUND Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) represent ligand-receptor disorders that are complementary. Individuals with both FH and FDB are unusual. We report a family with both disorders and the impact of the mutations on the phenotypes of the family members. METHODS We used single strand conformation polymorphism (SSCP) and denaturing gradient gel electrophoresis (DGGE) for genetic analysis of all 18 exons and the promoter region of the… Expand
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