Article
Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.
Human mutation - 1 Jan 1995
Santisteban I, Arredondo-Vega F X, Kelly S, Debre M, Fischer A, Pérignon J L, Hilman B, elDahr J, Dreyfus D H, Gelfand E W
Abstract excerpt
Three new missense mutations (H15D, A83D, and A179D) and a new splicing defect (573 + IG-->A) in the 5' splice site of intron 5 were among six mutant adenosine deaminase (ADA) alleles found in three unrelated patients with severe combined immunodeficiency disease, the most common phenotype associated with ADA deficiency. When expressed in vitro, the H15D, A83D, and A179D proteins lacked detectable ADA activity....
Topics
- Adenosine Deaminase
- Alanine
- Base Sequence
- Binding Sites
- Black People
- Conserved Sequence
- Histidine
- Humans
- Infant
- Introns
- Male