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Article

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.

Human mutation - 1 Jan 1996

Koivisto U M, Kontula K

Abstract excerpt

A combined deletion/inversion rearrangement of the LDL receptor gene was discovered in a Finnish patient with heterozygous familial hypercholesterolemia (FH). Sequence analysis of the mutated allele revealed an insertion of 4 nucleotides in exon 11, caused by a combined deletion and insertion event replacing a 13-bp segment of the normal exon 11 sequence of the LDL receptor gene by a 17-bp stretch of new sequence...

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Identifiers

PMID: 8956037
DOI: 10.1002/(SICI)1098-1004(1996)8:4<326::AID-HUMU5>3.0.CO;2-5

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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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