Article
Mutation detection in tumor suppressor genes using archival tissue specimens.
Methods in molecular medicine - 1 Jan 2006
Astrinidis Aristotelis, Henske Elizabeth Petri
Abstract excerpt
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome characterized by seizures, mental retardation, and benign tumors of many organs, including the brain, kidneys, skin, retina, and heart. TSC is caused by mutations in the TSC1 and TSC2 tumor suppressor genes. The genes follow the two-hit model for tumorigenesis, with germline mutations inactivating one allele and somatic mutations inactivating the...
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