An asymptomatic germline missense base substitution in the hypoxanthine phosphoribosyltransferase (HPRT) gene that reduces the amount of enzyme in humans
- 3 December 1996
- journal article
- case report
- Published by Springer Nature in Human Genetics
- Vol. 99 (1), 8-10
- https://doi.org/10.1007/s004390050300