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

• Main Authors: Dommering Charlotte (Author), Baars Marieke (Author), Maat-Kievit Anneke (Author), Wessels Marja (Author), Adriaans Alwin (Author), Goedbloed Miriam (Author), Sancak Őzgür (Author), Nellist Mark (Author), van den Ouweland Ans (Author), Halley Dicky (Author)
• Format: Book
• Published: BMC, 2008-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<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 &...