Identification of the insertion/deletion mutation in Spanish beta-propionyl-CoA carboxylase-deficient patients

J Inherit Metab Dis. 1994;17(6):661-3. doi: 10.1007/BF00712007.
No abstract available

MeSH terms

  • Alleles
  • Amino Acid Metabolism, Inborn Errors / enzymology
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Carboxy-Lyases / deficiency*
  • DNA Mutational Analysis*
  • Humans
  • Methylmalonyl-CoA Decarboxylase
  • Polymerase Chain Reaction
  • Propionates / blood*
  • Sequence Deletion
  • Spain

Substances

  • Propionates
  • Carboxy-Lyases
  • Methylmalonyl-CoA Decarboxylase