Article
Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.
BMC medical genetics - 26 Oct 2012
Mußotter Tanja, Kluwe Lan, Högel Josef, Nguyen Rosa, Cooper David N, Mautner Victor-Felix, Kehrer-Sawatzki Hildegard
Abstract excerpt
BACKGROUND: Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is characterised by tumours of the peripheral nerve sheaths, the pathognomonic neurofibromas....
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cyclin-Dependent Kinase Inhibitor p15
- Cyclin-Dependent Kinase Inhibitor p16
- Female
- Gene Deletion
- Gene Expression Regulation, Neoplastic
- Genes, Neurofibromatosis 1
- Genetic Association Studies
- Genetic Predisposition to Disease