A carregar...
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...
Na minha lista:
| Publicado no: | J Clin Invest |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
1972
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC292328/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4624352/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI106982 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|