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Article

A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.

Molecular genetics and metabolism - 1 Jan 2000

Bruun Gitte Hoffmann, Doktor Thomas Koed, Andresen Brage Storstein

Abstract excerpt

In recent studies combining genome-wide association and tandem-MS based metabolic profiling, a single-nucleotide polymorphism (SNP), rs211718C>T, located far upstream of the MCAD gene (ACADM) was found to be associated with serum concentrations of medium-chain acylcarnitines indicating improved beta-oxidation of medium-chain fatty acids. We examined the functional basis for this association and identified linkage...

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Topics

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Share to Acyl-CoA Dehydrogenase
Share to Alternative Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heterogeneous Nuclear Ribonucleoprotein A1

Share to Heterogeneous-Nuclear Ribonucleoprotein Group A-B

Share to Lipid Metabolism, Inborn Errors

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Source

Identifiers

PMID: 23810226
DOI: 10.1016/j.ymgme.2013.06.005

Genes

ACADM
SRSF1

Variants

rs211718

Provenance

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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