Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.

We have investigated the structural gene for adenosine deaminase (ADA) in a female infant with ADA deficiency associated severe combined immune deficiency (ADA-SCID) disease and her family by DNA restriction-fragment-length analysis. In this family a new ADA-specific restriction-fragment-length vari...

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Autores principales: Berkvens, T M, Gerritsen, E J, Oldenburg, M, Breukel, C, Wijnen, J T, van Ormondt, H, Vossen, J M, van der Eb, A J, Meera Khan, P
Formato: Artigo
Lenguaje:Inglês
Publicado: 1987
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC306474/
https://ncbi.nlm.nih.gov/pubmed/3684597
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