...TSC1 (chromosome 9q34) and TSC2 (chromosome 16p13) genes. TSC2 LOH was detected in seven (54%) of the angiomyolipomas. W...
Tuberous sclerosis (TSC) is an autosomal dominant disorder caused by a mutation in either the TSC1 or TSC2 tumour suppre...
Identification of NF1, TSC2 and TSC1 genes has enabled us to focus on their function and regulation. Evidence suggests t...
...TSC1), which is associated with renal tumors, we performed FISH with two TSC1 flanking cosmids that were mapped proximal...
...TSC1 in 9q34 and TSC2 in 16p13.3, to be involved in the disease. The TSC2 gene, composed of 41 exons, has been isolated ...
...TSC1 gene in case 1 and the TSC2 gene in case 2; no mutations have been identified yet in cases 3 and 4. Temporal lobect...
...TSC1 and TSC2) for both loci have recently been cloned, their function remains an enigma. Data presented here demonstrat...
...TSC1) and the other on chromosome 16p13.3 (TSC2). The majority of TSC2 mutations are probably subtle alterations. In som...
...TSC1 and TSC2 phenotypes have been considered identical. We have now comprehensively defined the TSC1 mutational spectru...
...TSC1 region on 9q34, determination of genomic structure, and identification of several coding region polymorphisms. The ...
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