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

Hum Mol Genet. 1994 Jun;3(6):1021-2. doi: 10.1093/hmg/3.6.1021.

Authors

L L Hansen¹, N Horn, H H Dahl, T A Kruse

Affiliation

¹ Institute of Human Genetics, University of Aarhus, Denmark.

PMID: 7545958
DOI: 10.1093/hmg/3.6.1021

No abstract available

Publication types

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

MeSH terms

Amino Acid Sequence
Base Composition
Base Sequence
Cells, Cultured
Child, Preschool
Consensus Sequence
DNA Primers
DNA Topoisomerases, Type II / genetics
Exons
Female
Humans
Macromolecular Substances
Molecular Sequence Data
Mutation*
Polymerase Chain Reaction
Pyruvate Dehydrogenase Complex / genetics*
Pyruvate Dehydrogenase Complex Deficiency Disease / enzymology
Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*
Sequence Homology, Nucleic Acid

Substances

DNA Primers
Macromolecular Substances
Pyruvate Dehydrogenase Complex
DNA Topoisomerases, Type II

Associated data

GENBANK/S75842