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Evidence for population variation in TSC1 and TSC2 gene expression

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in one of two genes, TSC1 or TSC2, which encode the proteins hamartin and tuberin, respectively [1-3]. Common features of TSC include intractable epilepsy, mental retardation, and autistic...

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Detalles Bibliográficos
Autores principales: Jentarra, Garilyn M, Rice, Stephen G, Olfers, Shannon, Saffen, David, Narayanan, Vinodh
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051885/
https://www.ncbi.nlm.nih.gov/pubmed/21345208
http://dx.doi.org/10.1186/1471-2350-12-29