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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Publicat a:Nat Commun
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2017
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5481739/
https://ncbi.nlm.nih.gov/pubmed/28643795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms15816
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