Article
Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex.
BMC medical genetics - 26 Feb 2008
Nellist Mark, Sancak Ozgür, Goedbloed Miriam, Adriaans Alwin, Wessels Marja, Maat-Kievit Anneke, Baars Marieke, Dommering Charlotte, van den Ouweland Ans, Halley Dicky
Abstract excerpt
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 and TSC2, interact to form a protein complex that inhibits...
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