A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1)

Hum Mol Genet. 1993 Nov;2(11):1961-2. doi: 10.1093/hmg/2.11.1961.
No abstract available

Publication types

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

MeSH terms

  • Alanine
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Chromosome Mapping
  • Conserved Sequence
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction / methods
  • Polymorphism, Genetic*
  • Proline
  • Pyruvate Dehydrogenase Complex / genetics*
  • X Chromosome*

Substances

  • Pyruvate Dehydrogenase Complex
  • Proline
  • Alanine