Article
High-resolution melting analysis is a more effective approach for screening TSC genes mutations.
Genetic testing and molecular biomarkers - 1 Jun 2011
Tsai Tz-Shiu, Huang Mu-Yi, Chang Yu-Tsui, Wang Chuan-Yu, Lin Ju-Li, Hung Po-Cheng, Lin Shuan-Pei, Sun Chien-Feng, Wang Wei-Shun, Chang Chung-Ming, Chang Shih-Cheng, Chu Da-Chang
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with a prevalence of 1 in 95,136 in Taiwan. TSC is characterized by hamartomatous lesions in multiple organ systems. Genetic defects in TSC1 and TSC2 genes are the main causes of TSC. A molecular screening protocol using denaturing high-performance liquid chromatography (dHPLC) followed by DNA sequencing is currently performed to locate the...
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