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

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

<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...

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Bibliographic Details
Main Authors: den Dunnen Johan T, Povey Sue, Ekong Rosemary, Sampson Julian, Kwiatkowski David, Hoogeveen-Westerveld Marianne, Mozaffari Melika, van den Ouweland Ans, Halley Dicky, Nellist Mark
Format: Article
Language:English
Published: BMC 2009-09-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/10/88

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http://www.biomedcentral.com/1471-2350/10/88

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