Prenatal diagnosis of homozygous familial hypercholesterolaemia. Expression of a genetic receptor disease in utero.

@article{Brown1978PrenatalDO,
  title={Prenatal diagnosis of homozygous familial hypercholesterolaemia. Expression of a genetic receptor disease in utero.},
  author={Michael Scott Brown and Petri T. Kovanen and Joseph L Goldstein and Roger Eeckels and Kamiel Vandenberghe and Herman Van den Berghe and Jean Pierre Fryns and Jean Jacques Cassiman},
  journal={Lancet},
  year={1978},
  volume={1 8063},
  pages={526-9}
}
Cultured amniotic-fluid cells from a fetus at risk for homozygous familial hypercholesterolaemia (F.H.) almost completely lacked cell-surface receptors for plasma low-density lipoprotein (L.D.L.), as evidenced by direct measurement of binding, uptake, and degradation of 125I-L.D.L. Functional consequences of L.D.L. binding to the receptor--i.e., suppression… CONTINUE READING