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...
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| Published in: | J Clin Invest |
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| Main Authors: | , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
American Society for Clinical Investigation
1968
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| Subjects: | |
| Online Access: | 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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