Studies on Hypoxanthine-Guanine Phosphoribosyltransferase in Fibroblasts from Patients with the Lesch-Nyhan Syndrome

Abstract The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyl-transferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured f...

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Autors principals: William N. Kelley, Jean C. Meade
Format: Artigo
Idioma:anglès
Publicat: 1971
Accés en línia:https://doi.org/10.1016/s0021-9258(18)62275-6
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