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Genetic heterogeneity in partial adenosine deaminase deficiency.

Inherited deficiency of the enzyme adenosine deaminase (ADA) results in a syndrome of severe combined immunodeficiency (SCID). Children with ADA- -SCID lack ADA in all cells and tissues. In contrast, a "partial" deficiency of ADA has been described in six immunologically normal children from four di...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Clin Invest
Prif Awduron: Hirschhorn, R, Martiniuk, F, Roegner-Maniscalco, V, Ellenbogen, A, Perignon, J L, Jenkins, T
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Clinical Investigation 1983
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC370394/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6863546/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI110944
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