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.

Παρόμοια τεκμήρια

• Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.
  ανά: Arredondo-Vega, F X, κ.ά.
  Έκδοση: (1990)
• Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
  ανά: Arredondo-Vega, F X, κ.ά.
  Έκδοση: (1998)
• The Binding Site of Human Adenosine Deaminase for Cd26/Dipeptidyl Peptidase IV: The Arg142gln Mutation Impairs Binding to Cd26 but Does Not Cause Immune Deficiency
  ανά: Richard, Eva, κ.ά.
  Έκδοση: (2000)
• 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.
  ανά: Santisteban, I, κ.ά.
  Έκδοση: (1993)
• IgG antibody response to polyethylene glycol-modified adenosine deaminase in patients with adenosine deaminase deficiency.
  ανά: Chaffee, S, κ.ά.
  Έκδοση: (1992)