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Hot spot mutations in adenosine deaminase deficiency.
We have previously characterized mutant adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4) enzymes in seven children with partial ADA deficiency. Six children shared common origins, suggesting a common progenitor. However, we found evidence for multiple phenotypically different mutant e...
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| Main Authors: | , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
1990
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC54494/ https://ncbi.nlm.nih.gov/pubmed/2166947 |
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