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Screening for mutations in exon 4 of the LDL receptor gene in Thai subjects with primary hypercholesterolemia: detection of a novel mutation D151Y by PCR-CFLP.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet - 1 Nov 2000

Pongrapeeporn K U, Sutthikhum V, Likidlilid A, Poldee S, Futrakul A, Yamwong P, Amornrattana A, Ong-Ajyooth S

Abstract excerpt

A mutation in low density lipoprotein (LDL) receptor gene causes an autosomal codominant disorder namely familial hypercholesterolemia (FH). Mutations in the LDL receptor gene are very heterogeneous at the DNA levels, occurring in all 18 exons of the gene. However, exon 4 has been found to be the hot spot for mutational events. In this study DNA from 45 Thai subjects with primary hypercholesterolemia was screened...

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PMID: 11194025

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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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