Functional characterisation of the TSC1–TSC2 complex to assess multiple <it>TSC2 </it>variants identified in single families affected by tuberous sclerosis complex

Functional characterisation of the TSC1–TSC2 complex to assess multiple <it>TSC2 </it>variants identified in single families affected by tuberous sclerosis complex

<p>Abstract</p> <p>Background</p> <p>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 &...

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Main Authors: Dommering Charlotte, Baars Marieke, Maat-Kievit Anneke, Wessels Marja, Adriaans Alwin, Goedbloed Miriam, Sancak Őzgür, Nellist Mark, van den Ouweland Ans, Halley Dicky
Format: Article
Language:English
Published: BMC 2008-02-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/9/10

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