Fujimori S.,1992
Fujimori S., Tagaya T., Kamatani N., Akaoka I. 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. - Hum.Genet., 1992, v. 90, p. 385-388.
