Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency

Adv Exp Med Biol. 1999:466:347-51. doi: 10.1007/0-306-46818-2_40.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Cardiomyopathies / genetics
  • Carnitine Acyltransferases
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Fatal Outcome
  • Fatty Acids / metabolism
  • Female
  • Humans
  • Infant
  • Lipid Metabolism, Inborn Errors / genetics*
  • Membrane Transport Proteins*
  • Molecular Sequence Data
  • Mutation, Missense*
  • Rats
  • Sequence Alignment
  • Sequence Homology, Amino Acid

Substances

  • Carrier Proteins
  • Fatty Acids
  • Membrane Transport Proteins
  • SLC25A20 protein, human
  • Carnitine Acyltransferases