Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. [electronic resource]
Producer: 20040423Description: 272-7 p. digitalISSN:- 1552-4825
- Age of Onset
- Ataxia Telangiectasia -- genetics
- Ataxia Telangiectasia Mutated Proteins
- Cell Cycle Proteins -- metabolism
- Child
- DNA Mutational Analysis
- DNA-Binding Proteins
- Disease Progression
- Frameshift Mutation -- genetics
- Heterozygote
- Humans
- Male
- Middle Aged
- Mutation, Missense -- genetics
- Nuclear Proteins -- metabolism
- Protein Serine-Threonine Kinases -- chemistry
- RNA Splicing
- Tumor Suppressor Protein p53 -- metabolism
- Tumor Suppressor Proteins
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.