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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| Publicat a: | Proc Natl Acad Sci U S A |
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| Autors principals: | , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
National Academy of Sciences
1990
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC54494/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2166947/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.87.16.6171 |
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