...Tsc2) gene in a 5'-to-5' orientation by sequence analysis and was assigned to chromosome 17A3 by in situ hybridization.
...Tsc2) causes renal cell carcinomas (RCs) with a complete penetrance in all heterozygotes. Tsc2 mutations have also been ...
Two genes, mutations in which result in the phenotype of tuberous sclerosis (TSC), have recently been cloned. TSC2 on ch...
...Tsc2 locus has been described in an animal model, the Eker rat. We report that the homozygous state of this mutation (Ts...
...TSC2 in TSC2-negative cells. High ectopic levels of p27 have cell cycle inhibitory effects in TSC2-positive cells but no...
...TSC2 gene. The disease is characterised by a broad phenotypic spectrum that can include seizures, mental retardation, re...
...TSC2 gene in the tumour. The primary mutation Q478X in this patient was identified in exon 13 of the TSC2 gene on chromo...
...TSC2), of which the TSC2 gene has been cloned. To date, only 35 mutations in the TSC2 gene have been described ranging f...
...TSC2 loci in clinically ascertained TSC and support a difference in severity of TSC1- and TSC2-associated disease.
...TSC2/Tsc2 product (tuberin) is not fully understood. To investigate these unsolved problems, we have generated a Tsc2 mu...
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