Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients

J Inherit Metab Dis. 1993;16(5):863-7. doi: 10.1007/BF00714279.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acidosis / blood
  • Acidosis / genetics*
  • Base Sequence
  • Carboxy-Lyases / deficiency*
  • Cells, Cultured
  • DNA, Complementary / metabolism
  • Fibroblasts / enzymology
  • Humans
  • Methylmalonyl-CoA Decarboxylase
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • Propionates / blood*
  • RNA, Messenger / analysis*
  • Sequence Analysis, RNA*

Substances

  • DNA, Complementary
  • Propionates
  • RNA, Messenger
  • Carboxy-Lyases
  • Methylmalonyl-CoA Decarboxylase