Article
Identical 3250-bp deletion between two AluI repeats in the ADA genes of unrelated ADA-SCID patients.
Genomics - 1 Aug 1990
Berkvens T M, van Ormondt H, Gerritsen E J, Khan P M, van der Eb A J
Abstract excerpt
Recently, we investigated a Belgian patient with severe combined immune deficiency caused by a dysfunction of the gene for adenosine deaminase (ADA-SCID), which was found to be due to a 3.2-kb deletion spanning the promoter and the first exon of the ADA gene (Berkvens et al., 1987, Eur. J. Pediat...
Topics
- Adenosine Deaminase
- Base Sequence
- Exons
- Genes
- Humans
- Immunologic Deficiency Syndromes
- Molecular Sequence Data
- Mutation
- Nucleoside Deaminases
- Polymerase Chain Reaction
- Promoter Regions, Genetic
- RNA
- Recombination, Genetic
- Repetitive Sequences, Nucleic Acid