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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2017
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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 |