Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.

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• One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.
  gan: Valerio, D, et al.
  Cyhoeddwyd: (1986)
• Severe combined immune deficiency due to a homozygous 3.2-kb deletion spanning the promoter and first exon of the adenosine deaminase gene.
  gan: Berkvens, T M, et al.
  Cyhoeddwyd: (1987)
• Adenosine Deaminase (ADA)–Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry
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  Cyhoeddwyd: (2020)
• Adenosine deaminase gene expression is regulated posttranscriptionally in the nucleus.
  gan: Berkvens, T M, et al.
  Cyhoeddwyd: (1988)
• Development of gene therapy: potential in severe combined immunodeficiency due to adenosine deaminase deficiency
  gan: Montiel-Equihua, Claudia A, et al.
  Cyhoeddwyd: (2009)