Tuberous Sclerosis Complex in Chinese patients: phenotypic analysis and mutational screening of TSC1/TSC2 genes
Tuberous sclerosis complex (TSC) is a rare autosomal dominant inherited disorder characterized by the growths of benign hamartomatous tumors in multiple organ systems, primarily in the brain, eyes, heart, kidney, skin and lungs [1]. The prevalence of the disease was estimated to range from 1/6000 to 1/10 000 [2]. Inactivating mutations in either of two genes, TSC1 on chromosome 9q34 (MIM 191100) and TSC2 on chromosome 16p13 (MIM 191092), were identified as responsible for TSC [3,4]. The TSC1 gene contains 23 exons, coding for a 130-kDa protein named Hamartin, while TSC2 consists of 42 exons generating a transcript from which a 200-kDa protein called Tuberin is deriving.
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Shan Lin, Jia-Bin Zeng, Gui-Xian Zhao, Zhen-Zhen Yang, Hui-Ping Huang, Min-Ting Lin, Zhi-Ying Wu, Ning-Wang, Wan-Jin Chen, Ling Fang Source Type: research
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