Homozygous familial hypercholesterolemia: a paradigm for phenotypic variation.

doi:10.1016/0002-9149(93)90004-v

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Article

Homozygous familial hypercholesterolemia: a paradigm for phenotypic variation.

The American journal of cardiology - 30 Sept 1993

Hoeg J M

Abstract excerpt

Most, if not all, inborn errors of metabolism manifest phenotypic heterogeneity in their clinical presentation. The term "penetrance" has been used to describe the degree to which a given genotype expresses itself in the phenotype of the individual. Although many explanations for this phenomenon...

Topics

Homozygote
Humans
Hyperlipoproteinemia Type II
Phenotype
Receptors, LDL

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