Article
The spectrum of mutations causing HPRT deficiency: an update.
Nucleosides, nucleotides & nucleic acids - 1 Oct 2004
Jinnah H A, Harris J C, Nyhan W L, O'Neill J P
Abstract excerpt
Mutations in the gene encoding hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause Lesch-Nyhan disease, which is characterized by hyperuricemia, severe motor disability, and self-injurious behavior. Mutations in the same gene also cause less severe clinical phenotypes with only some portions of the full syndrome. A large database of 271 mutations associated with both full and partial clinical phenotypes...
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