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Article

Novel gene mutations at the low density lipoprotein receptor locus: FH-Kanazawa and FH-Okayama.

Journal of internal medicine - 1 Apr 1990

Kajinami K, Mabuchi H, Inazu A, Fujita H, Koizumi J, Takeda R, Matsue T, Kibata M

Abstract excerpt

Gene mutations at the low density lipoprotein (LDL) receptor locus were screened in 210 alleles of Japanese patients with familial hypercholesterolaemia (FH). In the present study, two types of novel mutation were identified by genomic Southern blotting using human LDL receptor cDNA probes. An approximately 12 kb deletion including exons 2 and 3 (and possibly 4) was identified in a patient (M.I.). The patient...

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Identifiers

PMID: 2324680
DOI: 10.1111/j.1365-2796.1990.tb00153.x

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EGF

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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