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...
Sábháilte in:
Príomhchruthaitheoirí: | , , |
---|---|
Formáid: | Artigo |
Teanga: | Béarla |
Foilsithe / Cruthaithe: |
1972
|
Rochtain ar líne: | https://doi.org/10.1172/jci106982 http://www.jci.org/articles/view/106982/files/pdf |
Clibeanna: |
Cuir clib leis
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
|