...TSC1 or TSC2. In five families, somatic mosaicism was present in a mildly affected parent of an index patient. In one fa...
...TSC1, and TSC2. The samples consisted of 103 unique sequence heterozygotes and 126 wild-type homozygous controls.,At the...
...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) and 16p13.3 (TSC2). TSC1 markers showed different maternal and paternal haplotypes in affected children, excluding...
...TSC1, TSC2, and VHL genes.,Three patients (ages 7, 8, and 20 years) had renal cell carcinomas (RCCs). Two of these patie...
...TSC1 (on 9q34) encodes hamartin. Tuberin has been immunolocalized to neurons and possibly astrocytes in normal brain and...
...TSC1, only recently identified. Here we review the current state of knowledge of the molecular genetics of tuberous scle...
Identification of NF1, TSC2 and TSC1 genes has enabled us to focus on their function and regulation. Evidence suggests t...
...TSC1 (chromosome 9q34) and TSC2 (chromosome 16p13) genes. TSC2 LOH was detected in seven (54%) of the angiomyolipomas. W...
...TSC1 and TSC2), the large size of the TSC2 gene, and the variety of mutations. More than half of the mutations that we i...
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