A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. [electronic resource]
Producer: 20120605Description: 49-55 p. digitalISSN:- 1878-0849
- Apoptosis Regulatory Proteins -- genetics
- Ataxia Telangiectasia -- diagnosis
- Ataxia Telangiectasia Mutated Proteins
- Cell Cycle Proteins -- genetics
- Child
- Chromosome Duplication
- Chromosome Inversion
- Chromosomes, Human, Pair 19 -- genetics
- DNA Damage
- DNA-Binding Proteins -- genetics
- Female
- Humans
- Lymphocytes -- cytology
- Mental Disorders -- genetics
- Metaphase
- Microcephaly -- genetics
- Protein Serine-Threonine Kinases -- genetics
- Saliva -- cytology
- Tumor Suppressor Proteins -- genetics
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.