Analysis of the TSC2 gene in human medulloblastoma
✍ Scribed by Rene Przkora; Birgit Meyer-Puttlitz; Ottmar Schmitt; Frank Berthold; Markus Nöthen; J. Krauss; Jörg C. Tonn; Andreas von Deimling; Otmar D. Wiestler; Torsten Pietsch
- Publisher
- Springer-Verlag
- Year
- 2001
- Tongue
- English
- Weight
- 48 KB
- Volume
- 102
- Category
- Article
- ISSN
- 0001-6322
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Medulloblastomas (MBs ) are the most frequent malignant brain tumors in children. The molecular pathogenesis of these tumors is still poorly understood. Microsatellite and restriction-fragment-length polymorphism studies have revealed allelic loss of genetic material on the short arm of chromos
Inactivation of the PTCH tumor suppressor gene occurs in a subset of sporadic medulloblastomas, suggesting that alterations in the PTCH pathway may be important in the development of this tumor. In order to address the frequency of genetic alterations affecting genes in this pathway, we used a combi
The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One option is to perform functional tests to assess whether