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

مواد مشابهة

• Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.
  بواسطة: Arredondo-Vega, F X, وآخرون
  منشور في: (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.
  بواسطة: Arredondo-Vega, F. X., وآخرون
  منشور في: (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.
  بواسطة: Santisteban, I, وآخرون
  منشور في: (1993)
• Adenosine Deaminase Deficiency and Purine Nucleoside Phosphorylase Deficiency in Common Variable Immunodeficiency
  بواسطة: Fleischman, Amy, وآخرون
  منشور في: (1998)
• Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)
  بواسطة: Lee, Pui Y., وآخرون
  منشور في: (2020)