...TSC2, encode hamartin and tuberin, respectively. Employing specific antibodies for hamartin and tuberin, we analyzed the...
...TSC2 syndrome phenotypes and the data from Krd mice imply that TSC2 and PAX2 may also serve as potential modifiers for t...
...TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor r...
...TSC2) gene, tuberin. As overexpression of tuberin inhibits cell growth, and hamartin is known to bind tuberin, these res...
...TSC2. This and further FISH deletion mapping studies revealed a submicroscopic deletion encompassing the entire TSC2 gen...
...TSC2) and together account for all cases [1,2]. Here we report our methods for DHPLC analysis of the TSC1 gene and demon...
...TSC2 gene. In a blind analysis, 15/15 previously characterised mutations were successfully identified using seven overla...
...TSC2 genes. Polycystic rat renal cells retained two normal Pkd1 alleles but were null for Tsc2 and exhibited loss of lat...
...TSC2 gene. Due to the complexity of the genes and the observation that almost each family has a unique mutation, DNA ana...
...TSC2 genes, by Southern blotting and by single-strand conformational analysis. Unique variants were detected in six fami...
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