Missense mutations to the TSC1 gene cause tuberous sclerosis complex

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 gene products,...

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Bibliographische Detailangaben
Hauptverfasser: Nellist, Mark, van den Heuvel, Diana, Schluep, Diane, Exalto, Carla, Goedbloed, Miriam, Maat-Kievit, Anneke, van Essen, Ton, van Spaendonck-Zwarts, Karin, Jansen, Floor, Helderman, Paula, Bartalini, Gabriella, Vierimaa, Outi, Penttinen, Maila, van den Ende, Jenneke, van den Ouweland, Ans, Halley, Dicky
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2009
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986174/
https://ncbi.nlm.nih.gov/pubmed/18830229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.170
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