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Article

Low-density lipoprotein receptor mutation that deletes exons 2 and 3 by Alu-Alu recombination.

Journal of biochemistry - 1 Mar 1993

Kigawa K, Kihara K, Miyake Y, Tajima S, Funahashi T, Yamamura T, Yamamoto A

Abstract excerpt

A deletion mutant in the low density lipoprotein receptor gene of a Japanese patient with heterozygous familial hypercholesterolemia was analyzed. Genomic Southern blotting showed abnormal size restriction fragments with BamHI (7.8 kb), EcoRI (3.8 kb), BglII (17 kb), KpnI (> 23 kb), EcoRV (13 kb), and XbaI (14 kb). The abnormal EcoRI fragment, 3.8 kb, was cloned into lambda phage vector, and the deleted region of...

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Identifiers

PMID: 8486609
DOI: 10.1093/oxfordjournals.jbchem.a124053

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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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