Missense mutations to the TSC1 gene cause tuberous sclerosis complex
β 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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The effects of missense changes and small in-frame deletions and insertions on protein function are not easy to predict, and the identification of such variants in individuals at risk of a genetic disease can complicate genetic counselling. One option is to perform functional tests to assess whether
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