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Article

Expression of an LDL receptor allele with two different mutations (E256K and I402T).

Molecular pathology : MP - 1 Feb 2000

Ekström U, Abrahamson M, Sveger T, Sun X M, Soutar A K, Nilsson-Ehle P

Abstract excerpt

AIMS: To investigate the disease causing event in patients with familial hypercholesterolaemia, carrying two mutations each, E256K in exon 6 and I402T in exon 9, of the gene encoding the low density lipoprotein (LDL) receptor. It was not known whether the mutations were positioned in cis or trans, or if they were each pathogenic separately or only when present together. METHODS: Polymerase chain reaction,...

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Source

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Identifiers

PMID: 10884919
DOI: 10.1136/mp.53.1.31
PMCID: PMC1186899

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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