Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

@article{Hobbs1992MolecularGO,
  title={Molecular genetics of the LDL receptor gene in familial hypercholesterolemia},
  author={Helen H. Hobbs and Michael S. Brown and Joseph L. Goldstein},
  journal={Human Mutation},
  year={1992},
  volume={1}
}
The low density lipoprotein (LDL) receptor is a cell surface transmembrane protein that mediates the uptake and lysosomal degradation of plasma LDL, thereby providing cholesterol to cells. Mutations disrupting the function of this receptor produce autosomal dominant familial hypercholesterolemia (FH). Affected individuals have elevated plasma levels of LDL, which causes premature coronary atherosclerosis. To date, 71 mutations in the LDL receptor gene have been characterized at a molecular… 

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...

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