Genotypic and phenotypic variation in familial hypercholesterolemia.

  title={Genotypic and phenotypic variation in familial hypercholesterolemia.},
  author={Gilbert R. Thompson and Mary Seed and S Niththyananthan and Se{\'a}n McCarthy and M. Thorogood},
  volume={9 1 Suppl},
Familial hypercholesterolemia is characterized by an increase in low density lipoprotein (LDL) cholesterol, tendon xanthomata, and premature atherosclerosis. In homozygotes, phenotypic expression of the disorder is dominated by genotypic variation at the LDL-receptor gene locus, with other influences, like gender, exerting relatively little effect. In contrast, phenotypic variation in heterozygotes is influenced not only by the nature of the underlying gene mutation but also by gender, diet… CONTINUE READING
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