Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

We examined the genetic basis for adenosine deaminase (ADA) deficiency in seven patients with late/delayed onset of immunodeficiency, an underdiagnosed and relatively unstudied condition. Deoxyadenosine-mediated metabolic abnormalities were less severe than in the usual, early-onset disorder. Six pa...

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Detalles Bibliográficos
Publicado en:J Clin Invest
Main Authors: Santisteban, I, Arredondo-Vega, F X, Kelly, S, Mary, A, Fischer, A, Hummell, D S, Lawton, A, Sorensen, R U, Stiehm, E R, Uribe, L
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 1993
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288410/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8227344/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116833
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