Molecular basis of adenosine deaminase deficiency.

Abstract excerpt

Adenosine deaminase (ADA) deficiency is an autosomal recessive disorder resulting in immunodeficiency. Since the cDNA for ADA was cloned approximately 10 years ago, investigators have determined the molecular basis for disease in many patients with ADA deficiency. Mutations that have been identified include point mutations causing amino acid substitutions, premature stop codons, RNA splicing errors, and deletion...

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