Article
Homozygous DNA variants in exon 9 of the LDL receptor gene in a Thai patient with primary hypercholesterolemia phenotype.
Journal of the Medical Association of Thailand = Chotmaihet thangphaet - 1 Dec 2001
Pongrapeeporn K, Yamwong P, Nuchpramool W, Sribhen K, Thepsuriyanon P, Leowattana W, Ong-Ajyooth S
Abstract excerpt
Mutation in low density lipoprotein (LDL) receptor gene causes an inherited primary hypercholesterolemia namely familial hypercholesterolemia (FH). In this study, 46 Thai patients with primary hypercholesterolemia were screened for mutations in exon 9 of the LDL receptor gene by polymerase chain reaction-restriction fragment length polymorphism (PCR - RFLP). The analysed fragment was 224 bp in length. According...
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