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Article

A novel LDLR mutation, H190Y, in a Utah kindred with familial hypercholesterolemia.

Journal of human genetics - 1 Jan 1999

Hopkins P N, Wu L L, Stephenson S H, Xin Y, Katsumata H, Nobe Y, Nakajima T, Hirayama T, Emi M, Williams R R

Abstract excerpt

Heterozygous familial hypercholesterolemia (FH) is a serious disorder causing twice normal low-density lipoprotein (LDL) cholesterol levels early in childhood and very early coronary disease in both men and women. Treatment with multiple medications together with diet can normalize cholesterol levels in many persons with FH and prevent or delay the development of coronary atherosclerosis. Previously published...

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Source

Identifiers

PMID: 10570905
DOI: 10.1007/s100380050179

Genes

LDLR

Variants

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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