EXPLORE CONNECTIONS
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.
Follow the relationships that help you find your next source.
Connections are not prepared for this record yet, or its source metadata has changed. The original record remains available while background snapshots are rebuilt.