Article
Lesch-Nyhan disease.
Nucleosides, nucleotides & nucleic acids - 1 Jun 2008
Nyhan W L
Abstract excerpt
Lesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthineguanine phosphoribosyltransferase; other variant enzymes are found in patients without abnormality in behavior or mental development, and there are intermediate phenotypes in which enzyme activity is intermediate. A considerable number and variety of mutations in the HPRT gene have been discovered.
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