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

BACKGROUND: 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 TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 g...

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Détails bibliographiques
Auteurs principaux: Mozaffari, Melika, Hoogeveen-Westerveld, Marianne, Kwiatkowski, David, Sampson, Julian, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2009
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2753308/
https://ncbi.nlm.nih.gov/pubmed/19747374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-10-88
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