Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

Antzeko izenburuak

• Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.
  nork: Arredondo-Vega, F X, et al.
  Argitaratua: (1990)
• Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.
  nork: Arredondo-Vega, F. X., et al.
  Argitaratua: (1994)
• Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
  nork: Santisteban, I, et al.
  Argitaratua: (1993)
• Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)
  nork: Lee, Pui Y., et al.
  Argitaratua: (2020)
• Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency
  nork: Fleischman, Amy, et al.
  Argitaratua: (1998)