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Loss of theTSC2product tuberin in subependymal giant-cell tumors

โœ Scribed by Yasuhiro Arai; Cameron A. Ackerley; L. E. Becker


Publisher
Springer-Verlag
Year
1999
Tongue
English
Weight
680 KB
Volume
98
Category
Article
ISSN
0001-6322

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Novel TSC2 mutations and decreased expre
โœ Jian-Hua Feng; Toshiyuki Yamamoto; Eiji Nanba; Haruaki Ninomiya; Akira Oka; Kous ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 1005 KB

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in many organs. Two genes responsible for TSC, TSC1 and TSC2, were recently identified. TSC1 and TSC2 encode the proteins hamartin and tuberin, respectively, and 337 different mutations have been reported