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Article

Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3.

Clinica chimica acta; international journal of clinical chemistry - 1 May 2009

Cameron Jamie, Holla Øystein L, Kulseth Mari Ann, Leren Trond P, Berge Knut Erik

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) patients with the splice site mutation c.313+1, G>A in intron 3 of the low density lipoprotein receptor (LDLR) gene, present with a phenotype similar to that of FH patients in general. However, a mild phenotype would have been expected from the published data showing that the mutation only causes skipping of exon 3. METHODS: Epstein Barr virus-transformed lymphocytes...

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Source

Identifiers

PMID: 19361455
DOI: 10.1016/j.cca.2009.02.001

Genes

LDLR

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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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