Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene

Hum Mol Genet. 1994 Jul;3(7):1193-4. doi: 10.1093/hmg/3.7.1193.

Authors

E Naito¹, M Ito, I Yokota, J Matsuda, A Yara, Y Kuroda

Affiliation

¹ Department of Pediatrics, School of Medicine, University of Tokushima, Japan.

PMID: 7981697
DOI: 10.1093/hmg/3.7.1193

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Base Sequence
Consensus Sequence
DNA Mutational Analysis
Female
Frameshift Mutation
Genes
Humans
Infant, Newborn
Male
Molecular Sequence Data
Mutation*
Polymerase Chain Reaction
Pyruvate Dehydrogenase Complex / genetics*
Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*

Substances

Pyruvate Dehydrogenase Complex