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Article

E207K mutation of low-density lipoprotein receptor in familial hypercholesterolemia.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Mar 2004

Tai Der-Yan, Chen Guey-Jen Lee, Tso Anli, Chang Hsing-Ya, Shei Shy-Ming

Abstract excerpt

We report a case of heterozygous familial hypercholesterolemia (HeFH) in a 36-year-old man with premature coronary artery disease (CAD). Hypercholesterolemia was found in family members including his mother, wife and all 3 of his children (2 boys aged 6 and 3 years, 1 girl aged 4 years). Genetic analysis revealed a G-->A substitution at nucleotide 682, resulting in Glu(207) to Lys (E207K) mutation of the...

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Identifiers

PMID: 15124051

Genes

CAD
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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