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Article

Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene.

Human molecular genetics - 1 Aug 1997

Brown R M, Otero L J, Brown G K

Abstract excerpt

In a significant number of patients with biochemical evidence of a defect in the E1 (pyruvate dehydrogenase) component of the pyruvate dehydrogenase complex, it has not proved possible to identify a mutation in the gene coding regions. To assess the need for more extensive genetic analysis in these patients and to establish a test system in which to study the biochemical consequences of mutations in the E1alpha...

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PMID: 9259285
DOI: 10.1093/hmg/6.8.1361

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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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