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January 1, 1987Nucleic Acids ResearchOpen Access

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

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Authors

TBTh.M. BerkvensInstitute of Human GeneticsEGE.J.A. GerritsenLeiden UniversityMOM. OldenburgLeiden University

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Berkvens et al. (1987) studied this question.

synapsesocial.com/papers/6a896540273d243e4992d79ahttps://doi.org/10.1093/nar/15.22.9365
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Also Consider

Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Investigation of the intrachromosomal position of the ADA locus on chromosome 20 by gene dosage studies2008 · 9 citations
  2. 2Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.1985 · 82 citations