Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

Adenosine deaminase (ADA) deficiency causes lymphopenia and immunodeficiency due to toxic effects of its substrates. Most patients are infants with severe combined immunodeficiency disease (SCID), but others are diagnosed later in childhood (delayed onset) or as adults (late onset); healthy individu...

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Main Authors: Arredondo-Vega, F X, Santisteban, I, Daniels, S, Toutain, S, Hershfield, M S
Formato: Artigo
Idioma:Inglês
Publicado: 1998
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377486/
https://ncbi.nlm.nih.gov/pubmed/9758612
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