Article
The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.
Experimental and molecular pathology - 1 Dec 2014
Yang Heung-Mo, Choi Hye-Jung, Hong Doo-Pyo, Joo Sung-Yeon, Lee Na-Eun, Song Ji-Young, Choi Yoon-La, Lee Jeeyun, Choi Dongil, Kim BoKyung, Park Hyo-Jun, Park Jae-Berm, Kim Sung Joo
Abstract excerpt
Angiomyolipomas (AMLs) are relatively rare hamartomatous or benign tumors that occasionally occur as part of tuberous sclerosis complex (TSC). Mutations in either of the two genes, TSC1 and TSC2, have been attributed to the development of TSC. Between 1994 and January 2009, 83 patients were diagnosed with AML at the Samsung Medical Center. In that group of patients, 5 (6%) had AML with TSC (AML-TSC). Mutational...
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