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...

詳細記述

書誌詳細

出版年:	J Clin Invest
主要な著者:	Hirschhorn, R, Martiniuk, F, Roegner-Maniscalco, V, Ellenbogen, A, Perignon, J L, Jenkins, T
フォーマット:	Artigo
言語:	Inglês
出版事項:	American Society for Clinical Investigation 1983
主題:	Research Article
オンライン･アクセス:	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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