@misc{indiciae0f608f562067,
  title = {A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.},
  author = {S Fujimori and T Tagaya and N Kamatani and I Akaoka},
  year = {1992},
  doi = {10.1007/bf00220464},
  url = {https://pubmed.ncbi.nlm.nih.gov/1282899/},
  note = {Source identifier: 1282899}
}