Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.

doi:10.1007/BF02435999

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Article

Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.

Journal of inherited metabolic disease - 1 Jan 1995

Ito M, Naito E, Yokota I, Takeda E, Matsuda J, Hirose M, Sejima H, Aiba H, Hojo H, Kuroda Y

Abstract excerpt

A new 18 bp insertion mutation in the gene for the alpha subunit of pyruvate dehydrogenase (E1 alpha) was found in a female patient with congenital lactic acidaemia. Cultured skin fibroblasts and Epstein-Barr virus-transformed lymphoblastoid cells from this patient showed decreased and normal pyr...

Topics

Alleles
Base Sequence
Cell Line, Transformed
Cells, Cultured
Dosage Compensation, Genetic
Female
Fibroblasts
Gene Expression
Herpesvirus 4, Human
Humans
Immunoblotting
Infant
Lactates
Lactic Acid

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lymphocytes

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 8598635
DOI: 10.1007/BF02435999

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8598635-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.