Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.

@article{TybjaergHansen1992FamilialDA,
  title={Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.},
  author={Anne Tybjaerg-Hansen and Stephen Eric Humphries},
  journal={Atherosclerosis},
  year={1992},
  volume={96 2-3},
  pages={91-107}
}
Familial defective apolipoprotein B-100 is a recently identified, dominantly inherited genetic disorder caused by a G to A mutation in exon 26 of the apolipoprotein B gene. This creates a substitution of glutamine for arginine in the codon for amino acid 3500 and results in reduced affinity of low density lipoprotein (LDL) to the LDL receptor. We have integrated already published data with hitherto unpublished data from 8 countries and a total of 135 affected individuals from 56 families, in an… CONTINUE READING
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