An 84 bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA

J Inherit Metab Dis. 1999 Jun;22(5):676-7. doi: 10.1023/a:1005506819699.
No abstract available

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / enzymology*
  • Amino Acid Metabolism, Inborn Errors / genetics
  • Carboxy-Lyases / deficiency
  • Carboxy-Lyases / genetics*
  • Cells, Cultured
  • Fibroblasts / cytology
  • Humans
  • Methylmalonyl-CoA Decarboxylase
  • Mutagenesis, Insertional*
  • Propionates / blood*
  • RNA, Messenger*

Substances

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