Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benign tumors in the brain and other vital organs. The genes implicated in disease development are TSC1 and TSC2. Here, we have performed mutational analysis followed by a genotype-phenotype correlation study based on the...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Avgeris, Socratis, Fostira, Florentia, Vagena, Andromachi, Ninios, Yiannis, Delimitsou, Angeliki, Vodicka, Radek, Vrtel, Radek, Youroukos, Sotirios, Stravopodis, Dimitrios J., Vlassi, Metaxia, Astrinidis, Aristotelis, Yannoukakos, Drakoulis, Voutsinas, Gerassimos E.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5711901/
https://ncbi.nlm.nih.gov/pubmed/29196670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-16988-w
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