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.

Lignende værker

• Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.
  af: Arredondo-Vega, F X, et al.
  Udgivet: (1990)
• IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency.
  af: Chaffee, S, et al.
  Udgivet: (1992)
• 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.
  af: Arredondo-Vega, F. X., et al.
  Udgivet: (1994)
• Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
  af: Arredondo-Vega, F X, et al.
  Udgivet: (1998)
• Adenosine Deaminase Deficiency – More Than Just an Immunodeficiency
  af: Whitmore, Kathryn V., et al.
  Udgivet: (2016)