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Article

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Human genetics - 1 Sept 2008

Ridout Cheryl K, Brown Ruth M, Walter John H, Brown Garry K

Abstract excerpt

Somatic mosaicism for a mutation in the X-linked PDHA1 gene was found in a girl who presented with manifestations of pyruvate dehydrogenase deficiency. Mutation in the PDHA1 gene was suggested by a mosaic pattern of E1alpha subunit immunostaining; however, initial screening of cDNA and the exons...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18709504
DOI: 10.1007/s00439-008-0538-0

Genes

PDHA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18709504-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.PMID 18709504Read ↗

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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 ↗

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