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

H. A. Jinnah, Laura De Gregorio, James C. Harris, William L. Nyhan, J. Patrick O'Neill

Research output: Contribution to journalArticlepeer-review

196 Scopus citations

Fingerprint

Dive into the research topics of 'The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases'. Together they form a unique fingerprint.

Medicine & Life Sciences

Chemical Compounds