Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and TSC2, following a second hit in a tumor suppressor gene in m...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Rosset, Clévia, Vairo, Filippo, Bandeira, Isabel Cristina, Correia, Rudinei Luis, de Goes, Fernanda Veiga, da Silva, Raquel Tavares Boy, Bueno, Larissa Souza Mario, de Miranda Gomes, Mireille Caroline Silva, Galvão, Henrique de Campos Reis, Neri, João I. C. F., Achatz, Maria Isabel, Netto, Cristina Brinckmann Oliveira, Ashton-Prolla, Patricia
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2017
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5624610/
https://ncbi.nlm.nih.gov/pubmed/28968464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0185713
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