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  • Title: Lesch-Nyhan disease.
    Author: Nyhan WL.
    Journal: Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):559-63. PubMed ID: 18600504.
    Abstract:
    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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