Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex
β Scribed by Ji-Eun Choi; Jong-Hee Chae; Yong-Seung Hwang; Ki-Joong Kim
- Book ID
- 113498348
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 161 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0387-7604
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Tuberous sclerosis complex (TSC) is a severe autosomal-dominant disorder characterized by the development of benign tumors (hamartomas) in many organs. It can lead to intellectual handicap, epilepsy, autism, and renal or heart failure. An inactivating mutation in either of two tumor-suppressor genes
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of multiple hamartomas involving many organs. About two-thirds of the cases are sporadic and appear to represent new mutations. With the cloning of two causative genes, TSC1 and TSC2 it is now possibl