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Erythrocyte Adenosine Deaminase Deficiency without Immunodeficiency: EVIDENCE FOR AN UNSTABLE MUTANT ENZYME

Inherited deficiency of the purine salvage enzyme adenosine deaminase (ADA) gives rise to a syndrome of severe combined immunodeficiency (SCID). We have studied a 2.5-yr-old immunologically normal child who had been found to lack ADA in his erythrocytes during New York State screening of normal newb...

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Bibliographische Detailangaben
Hauptverfasser: Hirschhorn, Rochelle, Roegner, Vivien, Jenkins, Trefor, Seaman, Carol, Piomelli, Sergio, Borkowsky, William
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1979
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC372225/
https://ncbi.nlm.nih.gov/pubmed/479373
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