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Detection of the Carrier State in Combined Immunodeficiency Disease Associated with Adenosine Deaminase Deficiency

A large pedigree containing a child with severe combined immunodeficiency disease (CID) associated with adenosine deaminase (ADA) deficiency was investigated to ascertain if heterozygotes could be detected by measuring red cell ADA activity. 9 of 17 individuals in three generations who were at risk...

Ausführliche Beschreibung

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Bibliografische Detailangaben
Veröffentlicht in:J Clin Invest
Hauptverfasser: Scott, C. Ronald, Chen, Shi-Han, Giblett, Eloise R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 1974
Schlagworte:
Online-Zugang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC333106/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4815083/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI107658
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