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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Detalhes bibliográficos
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 em: 1993
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC288410/
https://ncbi.nlm.nih.gov/pubmed/8227344
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