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Article

A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.

Journal of inherited metabolic disease - 1 Jan 1991

Endo H, Miyabayashi S, Tada K, Narisawa K

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Identifiers

PMID: 1779625
DOI: 10.1007/BF01799952

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.PMID 1779625Read ↗

Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.Semantic proximity Read ↗

Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.Semantic proximity Read ↗

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

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

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

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 ↗

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.Semantic proximity Read ↗

Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.Semantic proximity Read ↗

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

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

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.Semantic proximity Read ↗

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.Semantic proximity Read ↗

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