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Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia.

Molecules and cells - 31 Aug 2004

Kim Ji-Hyun, Choi Ho-Kap, Lee Haeyul, Park Hyun Young, Kim Jeong-Ho, Kim Jong-Won, Kim Hyon J, Lee Seung-Taek

Abstract excerpt

We have identified 16 different mutations of the low-density lipoprotein receptor (LDLR) gene in 25 unrelated Korean patients with heterozygous familial hypercholesterolemia (FH), including five novel mutations, C83Y, 661del17, 1705insCTAG, C675X, and 941-1G>A. The 1705insCTAG mutation in which the four 3 cent -terminal nucleotides of exon 11 are duplicated was found to prevent splicing of exon 11 and would...

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PMID: 15359125

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LDLR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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