TY  - RPRT
TI  - 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.
AU  - S Fujimori
AU  - T Tagaya
AU  - N Kamatani
AU  - I Akaoka
PY  - 1992
DO  - 10.1007/bf00220464
UR  - https://pubmed.ncbi.nlm.nih.gov/1282899/
ID  - 1282899
ER  -