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Details on Person Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency

Class:IdLiteratureReference:9734722
_displayNameIdentification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency
_timestamp2021-06-18 17:41:57
author[Person:5357579] Hirschhorn, Rochelle
[Person:5357597] Tzall, Stephanie
[Person:9734707] Ellenbogen, Amy
[Person:5225631] Orkin, Stuart H
created[InstanceEdit:9734725] D'Eustachio, Peter, 2021-06-18
journalJ Clin Invest
pages497-501
pubMedIdentifier2783588
titleIdentification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency
volume83
year1989
(literatureReference)[CatalystActivityReference:9734742] deaminase activity of ADA mutants [cytosol] Hot spot mutations in adenosine deaminase deficiency
[EntityWithAccessionedSequence:9734741] ADA P297Q [cytosol] [Homo sapiens]
[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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