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Article

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.

Molecular genetics and metabolism - 1 Aug 2002

Dey Runu, Aral Bernard, Abitbol Marc, Marsac Cecile

Abstract excerpt

Mutations in the E3-binding protein component of pyruvate dehydrogenase complex have been demonstrated in a few cases of Leigh syndrome. We report that two mutations previously detected in the E3-binding protein cDNA are the consequence of splice-site mutations. Both involved a single base substitution in the conserved dinucleotides of splice junctions, one leading to skipping of an exon and the other, to...

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Source

Identifiers

PMID: 12208141
DOI: 10.1016/s1096-7192(02)00104-x

Genes

PDX1

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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