A new but frequent mutation of apoB-100-apoB His3543Tyr.

  title={A new but frequent mutation of apoB-100-apoB His3543Tyr.},
  author={Muhidien Soufi and Alexander M. Sattler and Winfried Maerz and Alexander Starke and Matthias Herzum and Bernhard Maisch and Juergen R Schaefer},
  volume={174 1},
ApolipoproteinB 100 (apoB-100) is an important component of atherogenic lipoproteins such as LDL and serves as a ligand for the LDL-receptor. Familial defective apolipoproteinB 100 (FDB) is caused by a R3500Q mutation of the apoB gene and results in decreased binding of LDL to the LDL-receptor. So far FDB is the most frequent and best studied alteration of apoB-100. Apart from this, three other apoB mutations, R3500W, R3531C and R3480W, affecting binding to the LDL-receptor are known to date… CONTINUE READING