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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...
Autores principales: | , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2011
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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 |