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Article

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants.

Human mutation - 1 Jan 1996

Jensen L G, Jensen H K, Nissen H, Kristiansen K, Faergeman O, Bolund L, Gregersen N

Abstract excerpt

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Share to Genetic Carrier Screening
Share to Hyperlipoproteinemia Type II
Share to Point Mutation
Share to Polymorphism, Single-Stranded Conformational

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Promoter Regions, Genetic

Share to Receptors, LDL

Share to RNA, Messenger

Share to Transcription, Genetic

Source

Identifiers

PMID: 8664911
DOI: 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

Provenance

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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