...TSC2 cases while three TSC2 cases showed enlarged proteins. TSC1 mutations include two nonsense mutations, four insertio...
...TSC2 mutations (42 sporadic and 16 familial cases). Overall, significantly more TSC2 mutations were found in our populat...
...TSC2 locus on chromosome 16p13.3. The TSC2 and the TSC1 genes have now been cloned, enabling mutation analysis. We repor...
...TSC2 genes, by Southern blotting and by single-strand conformational analysis. Unique variants were detected in six fami...
...TSC2 gene in renal angiomyolipomas has been demonstrated in association with pulmonary lymphangioleiomyomatosis. The TSC...
...TSC2) that have 21 and 41 coding exons, respectively. The mutational spectrum at both loci is wide and previous studies ...
...TSC2, which encode (respectively) the proteins hamartin and tuberin. There is circumstantial evidence that both proteins...
...TSC2 and LCB2/TSC1 genes encode homologous proteins of the alpha-oxoamine synthase family required for serine palmitoylt...
...TSC2 gene products are hypothesized to function as growth regulators by modulating the activities of small GTPase molecu...
...Tsc2 is the rate-limiting step for renal carcinogenesis in the Eker rat model. Although inactivation of Tsc2 results in ...
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