Article
A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas.
Journal of neuropathology and experimental neurology - 1 Jul 1997
Platten M, Meyer-Puttlitz B, Blümcke I, Waha A, Wolf H K, Nöthen M M, Louis D N, Sampson J R, von Deimling A
Abstract excerpt
The tuberous sclerosis 2 (TSC2) gene is thought to function as a growth suppressor in sporadic and TSC-associated hamartomas and tumors. Clusters of dysplastic glial cells are a common feature of cortical tubers and subependymal nodules in tuberous sclerosis patients. In an effort to identify TSC2 gene alterations in sporadic gliomas, we detected a novel polymorphism adjacent to the 3'splice site of intron 4. We...
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