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 have been put forward, the molecular bases for this have been difficult to define. The investigation of the disease...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.