Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome
The Lesch-Nyhan syndrome is characterized clinically by choreoathetosis, spasticity, selfmutilation, and mental and growth retardation. Biochemically, there is a striking reduction of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in affected individuals. We have examined erythrocyt...
Tallennettuna:
| Päätekijät: | , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | englanti |
| Julkaistu: |
1972
|
| Linkit: | https://doi.org/10.1172/jci106982 http://www.jci.org/articles/view/106982/files/pdf |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|