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Article

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.

Human molecular genetics - 1 Jun 1994

Hansen L L, Horn N, Dahl H H, Kruse T A

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Share to Base Composition
Share to Consensus Sequence
Share to DNA Primers
Share to DNA Topoisomerases, Type II

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

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Share to Pyruvate Dehydrogenase Complex

Share to Pyruvate Dehydrogenase Complex Deficiency Disease

Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 7545958
DOI: 10.1093/hmg/3.6.1021

Provenance

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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.PMID 7545958Read ↗

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Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.Semantic proximity Read ↗

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Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.Semantic proximity Read ↗

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Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.Semantic proximity Read ↗

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.Semantic proximity Read ↗

A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.Semantic proximity Read ↗

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiencySemantic proximity Read ↗

Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1).Semantic proximity Read ↗

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.Semantic proximity Read ↗

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