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Article

Molecular genetic diagnosis of a family with hypercholesterolemia by a mismatched PCR-RFLP method for genotyping single base substitution of the LDL receptor gene.

Japanese heart journal - 1 Sept 1998

Yamaki E, Hirayama T, Wu L L, Hopkins P N, Williams R R, Emi M

Abstract excerpt

Plasma lipid and lipoprotein levels reflect in part the influence of relevant genetic loci. Defects at some of these loci account for specific types of dyslipoproteinemia occurring with regularity among family members. In the course of familial investigations of coronary artery disease, we identified an family in which several members were affected with elevated low density lipoprotein (LDL) cholesterol levels....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9925999
DOI: 10.1536/ihj.39.681

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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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