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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Genet Mol Biol
Main Authors: Rosset, Clévia, Netto, Cristina Brinckmann Oliveira, Ashton-Prolla, Patricia
Format: Artigo
Jezik:Inglês
Izdano: Sociedade Brasileira de Genética 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5409767/
https://ncbi.nlm.nih.gov/pubmed/28222202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2015-0321
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