...TSC2), the large size of the TSC2 gene, and the variety of mutations. More than half of the mutations that we identified...
...TSC2 (chromosome 16p13) genes. TSC2 LOH was detected in seven (54%) of the angiomyolipomas. We also found TSC2 LOH in fo...
Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppre...
...TSC2 gene that predisposes them to renal carcinoma, whereas additional factors influence tumor promotion/progression in ...
...TSC2-containing region on 16p in one case, and on 3p in two cases, showing that multiple genetic alterations are taking ...
Identification of NF1, TSC2 and TSC1 genes has enabled us to focus on their function and regulation. Evidence suggests t...
...TSC2 gene, in cerebral, renal and cardiac tissues obtained from patients with tuberous sclerosis and from control patien...
...TSC2 mutations using the protein truncation test (PTT). Three cases were predicted to be TSC2 mutations on the basis of ...
...TSC2 in 16p13.3, to be involved in the disease. The TSC2 gene, composed of 41 exons, has been isolated and is shown to e...
...TSC2 genes, which lie close together on chromosome 16. The phenomenon of anticipation, whereby disease presentation occu...
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