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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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
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Article
Acceso en línea: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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