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Article

Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.

American journal of human genetics - 1 Aug 1990

Dahl H H, Maragos C, Brown R M, Hansen L L, Brown G K

Abstract excerpt

A 7-bp deletion in the X-chromosomal pyruvate dehydrogenase (PDH) E1 alpha gene was characterized in a female patient with the "cerebral" form of PDH deficiency. The mutation was localized using the chemical cleavage method and further characterized by application of the polymerase chain reaction and DNA sequencing. This 7-bp sequence is found in the normal gene as a direct tandem repeat. The deletion causes a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Enzymologic

Share to Molecular Sequence Data

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Share to Repetitive Sequences, Nucleic Acid

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Source

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Identifiers

PMID: 2378353
PMCID: PMC1683706

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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