Lise Lotte Hansen

Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene

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

  • H H Dahl
  • ,
  • G K Brown
  • ,
  • R M Brown
  • ,
  • Lise Lotte Hansen
  • D S Kerr
  • ,
  • I D Wexler
  • ,
  • M S Patel
  • ,
  • L De Meirleir
  • ,
  • W Lissens
  • ,
  • K Chun
We present an update on mutations and polymorphisms in the human X chromosome located pyruvate dehydrogenase E1 alpha gene. A total of 20 different mutations are tabulated. The mutations include deletions, insertions, and point mutations. Certain sequences seem particularly prone to mutation. Most of the mutations are found in exons 10 and 11. Furthermore, four of the mutations are seen in unrelated patients. Little is known about how the mutations affect the structure or function of the pyruvate dehydrogenase complex.
Original languageEnglish
JournalHuman Mutation
Pages (from-to)97-102
Number of pages6
Publication statusPublished - 1992

    Research areas

  • Amino Acid Sequence, Base Sequence, Child, Codon, Exons, Female, Humans, Molecular Sequence Data, Mutation, Polymorphism, Genetic, Pregnancy, Prenatal Diagnosis, Pyruvate Dehydrogenase Complex, Pyruvate Dehydrogenase Complex Deficiency Disease, X Chromosome

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