Human APRT deficiency: indication for multiple origins of the most common Caucasian mutation and detection of a novel type of mutation involving intrastrand-templated repair

Hum Mutat. 1997;10(3):251-5. doi: 10.1002/(SICI)1098-1004(1997)10:3<251::AID-HUMU15>3.0.CO;2-Z.
No abstract available

MeSH terms

  • Adenine Phosphoribosyltransferase / deficiency*
  • Adenine Phosphoribosyltransferase / genetics*
  • Base Sequence
  • DNA Repair*
  • European Continental Ancestry Group / genetics*
  • Gene Amplification
  • Humans
  • Molecular Sequence Data
  • Mutation*
  • Polymorphism, Restriction Fragment Length
  • Sequence Analysis, DNA
  • Templates, Genetic

Substances

  • Adenine Phosphoribosyltransferase