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

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Original languageEnglish
JournalHuman Molecular Genetics
Pages (from-to)1021-2
Number of pages2
Publication statusPublished - 1994

    Research areas

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

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ID: 42693583