One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.

Eitemau Tebyg

• Adenosine deaminase: characterization and expression of a gene with a remarkable promoter.
  gan: Valerio, D, et al.
  Cyhoeddwyd: (1985)
• Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.
  gan: Valerio, D, et al.
  Cyhoeddwyd: (1984)
• Adenosine deaminase gene expression is regulated posttranscriptionally in the nucleus.
  gan: Berkvens, T M, et al.
  Cyhoeddwyd: (1988)
• Adenosine deaminase mRNA expression is regulated posttranscriptionally during differentiation of HL-60 cells.
  gan: Berkvens, T M, et al.
  Cyhoeddwyd: (1987)
• Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.
  gan: Bonthron, D T, et al.
  Cyhoeddwyd: (1985)