Browsing by Author "6a470e68-3aa3-42ae-ab28-a6530bd66523"

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    • Lesch-Nyhan disease in two families from Chiloe island with mutations in the HPRT1 gene 
      Nguyen, Khue Vu; Silva, Sebastián; Troncoso Schifferli, Lucy Mónica; Naviaux, Robert K.; Nyhan, William L. (Taylor & Francis, 2017)
      Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent ...