Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene

Hum Mol Genet. 1995 Feb;4(2):307-8. doi: 10.1093/hmg/4.2.307.
No abstract available

Publication types

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

MeSH terms

  • Base Composition
  • Base Sequence
  • Exons
  • Female
  • Heterozygote
  • Humans
  • Infant
  • Molecular Sequence Data
  • Pyruvate Dehydrogenase Complex / genetics*
  • Pyruvate Dehydrogenase Complex Deficiency Disease / etiology
  • Pyruvate Dehydrogenase Complex Deficiency Disease / genetics*
  • Repetitive Sequences, Nucleic Acid
  • Sequence Deletion*

Substances

  • Pyruvate Dehydrogenase Complex