Identification of a region required for TSC1 stability by functional analysis of <it>TSC1 </it>missense mutations found in individuals with tuberous sclerosis complex

• Main Authors: den Dunnen Johan T (Author), Povey Sue (Author), Ekong Rosemary (Author), Sampson Julian (Author), Kwiatkowski David (Author), Hoogeveen-Westerveld Marianne (Author), Mozaffari Melika (Author), van den Ouweland Ans (Author), Halley Dicky (Author), Nellist Mark (Author)
• Format: Book
• Published: BMC, 2009-09-01T00:00:00Z.
• 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 the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the <it>TSC1 </it>gene on...