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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Sci Rep
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2017
Pynciau:
Article
Mynediad Ar-lein: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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