Article
Molecular basis of adenosine deaminase deficiency.
Immunodeficiency - 1 Jan 1994
Markert M L
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 identif...
Topics
- Adenosine Deaminase
- Amino Acid Sequence
- Base Sequence
- Cell Line
- DNA Mutational Analysis
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- RNA, Messenger
- Severe Combined Immunodeficiency