...TSC2) as the predisposing Eker gene. The Eker rat provides a valuable experimental model for understanding the mechanism...
...TSC2 on chromosome 16p. Here, we report our analysis of TSC1 (hamartin) and TSC2 (tuberin) protein expression in the cen...
...TSC2 gene. Eight novel intragenic polymorphisms have been found, one in intron 36 and seven in intron 4, with the use of...
...TSC2 locus and 26 are either sporadic or too small to establish chromosome linkage. The TSC2 gene spans at least 45 kilo...
...TSC2. In a subsequent blinded analysis of 15 samples with 18 distinct TSC2 sequence variants originally detected by SSCP...
We have surveyed the mutations of TSC1 and TSC2 from 38 (25 sporadic, 11 familial, and 2 unknown) Japanese patients with...
...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...
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