Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833706 | Molecular Genetics and Metabolism | 2012 | 4 Pages |
Abstract
Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNV). We report a case of two LNS affected members of a family with deficiency of activity of HPRT in intact cultured fibroblasts in whom mutation could not be found in the HPRT coding sequence but there was markedly decreased HPRT expression of mRNA.
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Authors
Khue Vu Nguyen, Robert K. Naviaux, Kacie K. Paik, William L. Nyhan,