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Article

Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet - 1 Dec 2001

Pongrapeeporn K, Leowattana W, Nuchpramool W, Kerdsaeng K, Thepsuriyanon P, Kiartivich S, Yamwong P, Ong-Ajyooth S, Amornrattana A, Kasemsuk L, Laungsuwan S, Sribhen K

Abstract excerpt

Primary hypercholesterolemia includes both monogenic disorders and polygenic conditions. Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB). Both disorders convey high risk of premature coronary artery disease. FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively. In the present study, mutations in...

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PMID: 12002902

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

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