Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

@article{Soria1989AssociationBA,
  title={Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.},
  author={L F Soria and Erwin H Ludwig and H. Reginald Clarke and Gloria Lena Vega and Scott M Grundy and Brian J. Mccarthy},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1989},
  volume={86 2},
  pages={
          587-91
        }
}
Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the apoB,E(LDL) receptor. The disorder appears to result from a mutation in the gene for apoB-100. Extensive sequence analysis of the two alleles of one subject heterozygous for the disorder has revealed a previously unreported mutation in the codon for amino acid 3500 that results in the substitution… CONTINUE READING
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