Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences

Am J Hum Genet. 1996 Jun;58(6):1373-7.
No abstract available

Publication types

  • Letter
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)
  • Alternative Splicing
  • Amino Acid Sequence
  • Base Sequence
  • DNA, Complementary
  • Exons
  • Female
  • Gene Library
  • Humans
  • Introns
  • Ketone Oxidoreductases / biosynthesis
  • Ketone Oxidoreductases / genetics*
  • Maple Syrup Urine Disease / genetics*
  • Molecular Sequence Data
  • Multienzyme Complexes / biosynthesis
  • Multienzyme Complexes / genetics*
  • Placenta / enzymology
  • Polymerase Chain Reaction
  • Pregnancy
  • Protein Biosynthesis
  • RNA, Messenger / biosynthesis

Substances

  • DNA, Complementary
  • Multienzyme Complexes
  • RNA, Messenger
  • Ketone Oxidoreductases
  • 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)

Associated data

  • GENBANK/U50708
  • GENBANK/U51015
  • GENBANK/U51016