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TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of one of two tumor suppressor genes, TSC1 or TSC2. Currently, th...

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Detalles Bibliográficos
Autores principales: Rosset, Clévia, Netto, Cristina Brinckmann Oliveira, Ashton-Prolla, Patricia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5409767/
https://www.ncbi.nlm.nih.gov/pubmed/28222202
http://dx.doi.org/10.1590/1678-4685-GMB-2015-0321