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Missense mutations to the TSC1 gene cause tuberous sclerosis complex

✍ Scribed by Nellist, Mark; van den Heuvel, Diana; Schluep, Diane; Exalto, Carla; Goedbloed, Miriam; Maat-Kievit, Anneke; van Essen, Ton; van Spaendonck-Zwarts, Karin; Jansen, Floor; Helderman, Paula


Book ID
109847795
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
345 KB
Volume
17
Category
Article
ISSN
1018-4813

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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