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Details on Person Hot spot mutations in adenosine deaminase deficiency
| Class:Id | LiteratureReference:9734724 |
|---|---|
| _displayName | Hot spot mutations in adenosine deaminase deficiency |
| _timestamp | 2021-06-18 17:41:57 |
| author | [Person:5357579] Hirschhorn, Rochelle [Person:5357597] Tzall, Stephanie [Person:9734707] Ellenbogen, Amy |
| created | [InstanceEdit:9734725] D'Eustachio, Peter, 2021-06-18 |
| journal | Proc Natl Acad Sci U S A |
| pages | 6171-5 |
| pubMedIdentifier | 2166947 |
| title | Hot spot mutations in adenosine deaminase deficiency |
| volume | 87 |
| year | 1990 |
| (literatureReference) | [EntityWithAccessionedSequence:9734736] ADA A215T [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9734747] ADA R211C [cytosol] [Homo sapiens] [CatalystActivityReference:9734742] deaminase activity of ADA mutants [cytosol] Hot spot mutations in adenosine deaminase deficiency [Pathway:9734735] Defective ADA disrupts (deoxy)adenosine deamination [Homo sapiens] [FailedReaction:9734745] Defective ADA does not deaminate (deoxy)adenosine [Homo sapiens] |
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No pathways have been reviewed or authored by Hot spot mutations in adenosine deaminase deficiency (9734724)
