Identification of two new missense mutations (R156C and S291L) in two ADA− SCID patients unusual for response to therapy with partial exchange transfusions

This publication has 8 references indexed in Scilit:

• Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA – patients with severe combined immunodeficiency (ADA – SCID)
  American Journal of Medical Genetics, 1992
• Progress toward gene therapy
  Clinical Immunology and Immunopathology, 1991
• Hot spot mutations in adenosine deaminase deficiency.
  Proceedings of the National Academy of Sciences, 1990
• Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.
  Journal of Clinical Investigation, 1989
• Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.
  Proceedings of the National Academy of Sciences, 1987
• Treatment of Adenosine Deaminase Deficiency with Polyethylene Glycol–Modified Adenosine Deaminase
  New England Journal of Medicine, 1987
• Immunological and biochemical profiles in response to transfusion therapy in an adenosine deaminase-deficient patient with severe combined immunodeficiency disease
  Clinical Immunology and Immunopathology, 1979
• Enzyme Replacement Therapy for Adenosine Deaminase Deficiency and Severe Combined Immunodeficiency
  New England Journal of Medicine, 1976