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

• Prif Awduron: den Dunnen Johan T (Awdur), Povey Sue (Awdur), Ekong Rosemary (Awdur), Sampson Julian (Awdur), Kwiatkowski David (Awdur), Hoogeveen-Westerveld Marianne (Awdur), Mozaffari Melika (Awdur), van den Ouweland Ans (Awdur), Halley Dicky (Awdur), Nellist Mark (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2009-09-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: 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...