The genomic landscape of tuberous sclerosis complex

Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tumours and other hamartomatous lesions, which leads to diverse and debilitating clinical symptoms. Patients are born with TSC1 or TSC2 mutations, and somatic inactivation of wild-type alleles drives MTOR...

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Detalles Bibliográficos
Autores principales: Martin, Katie R., Zhou, Wanding, Bowman, Megan J., Shih, Juliann, Au, Kit Sing, Dittenhafer-Reed, Kristin E., Sisson, Kellie A., Koeman, Julie, Weisenberger, Daniel J., Cottingham, Sandra L., DeRoos, Steven T., Devinsky, Orrin, Winn, Mary E., Cherniack, Andrew D., Shen, Hui, Northrup, Hope, Krueger, Darcy A., MacKeigan, Jeffrey P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481739/
https://www.ncbi.nlm.nih.gov/pubmed/28643795
http://dx.doi.org/10.1038/ncomms15816

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481739/
https://www.ncbi.nlm.nih.gov/pubmed/28643795
http://dx.doi.org/10.1038/ncomms15816

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