Article
Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.
American journal of human genetics - 1 May 1994
Arredondo-Vega F X, Santisteban I, Kelly S, Schlossman C M, Umetsu D T, Hershfield M S
Abstract excerpt
Adenosine deaminase (ADA) deficiency usually causes severe combined immune deficiency in infancy. Milder phenotypes, with delayed or late onset and gradual decline in immune function, also occur and are associated with less severely impaired deoxyadenosine (dAdo) catabolism. We have characterized the mutations responsible for ADA deficiency in siblings with striking disparity in clinical phenotype. Erythrocyte...
Topics
- Adenosine Deaminase
- Base Sequence
- Cell Line
- Cells, Cultured
- Child, Preschool
- DNA
- DNA Primers
- Exons
- Female
- Fibroblasts
- Genetic Carrier Screening