Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man
A deficiency of adenine phosphoribosyltransferase (A-PRTase) is described in four members in three generations of one family. A-PRTase is coded by an autosome and the mutants described in this report are heterozygotes for this enzyme defect. The level of enzyme activity in these heterozygotes was in...
Guardat en:
| Publicat a: | J Clin Invest |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
1968
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC297392/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/5676523/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI105913 |
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