The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

Autor: Jinnah, H.A. *, De Gregorio, Laura, Harris, James C., Nyhan, William L., O’Neill, J.Patrick
Zdroj: In Mutation Research-Reviews in Mutation Research October 2000 463(3):309-326
Databáze: ScienceDirect