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

類似資料

• Adenosine deaminase gene expression is regulated posttranscriptionally in the nucleus.
  著者:: Berkvens, T M, 等
  出版事項: (1988)
• Adenosine deaminase mRNA expression is regulated posttranscriptionally during differentiation of HL-60 cells.
  著者:: Berkvens, T M, 等
  出版事項: (1987)
• Adenosine deaminase: characterization and expression of a gene with a remarkable promoter.
  著者:: Valerio, D, 等
  出版事項: (1985)
• Adenosine deaminase (ADA) deficiency in cells derived from humans with severe combined immunodeficiency is due to an aberration of the ADA protein.
  著者:: Valerio, D, 等
  出版事項: (1984)
• One adenosine deaminase allele in a patient with severe combined immunodeficiency contains a point mutation abolishing enzyme activity.
  著者:: Valerio, D, 等
  出版事項: (1986)