Article
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
PloS one - 1 Jan 2017
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
Abstract excerpt
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 most hamartomas. Comprehensive screening for mutations in both the TSC1 and TSC2 loci has been performed in several...
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