60 research outputs found
Adenosine deaminase (ADA) deficiency due to deletion of the ADA gene promoter and first exon by homologous recombination between two Alu elements.
Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.
Biochemical and Functional Abnormalities in Lymphocytes from an Adenosine Deaminase-deficient Patient during Enzyme Replacement Therapy
High-level activation by a duodenum-specific enhancer requires functional GATA binding sites
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