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Article

[Genotype-phenotype correlations in familial hypercholesterolemia].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1999

Kajinami K

Abstract excerpt

The low-density lipoprotein (LDL) receptor gene mutations cause familial hypercholesterolemia (FH), which was characterized by increased levels of LDL cholesterol and premature coronary atherosclerosis. Molecular genetic study of FH showed extreme heterogeneity in their underlying LDL receptor gene mutations, and suggested that this heterogeneity is responsible for the variability of its clinical manifestations....

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PMID: 10638211

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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