Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis
✍ Scribed by Alistair C. Jones; Magitha M. Shyamsundar; Meinir W. Thomas; Julie Maynard; Shelley Idziaszczyk; Susan Tomkins; Julian R. Sampson; Jeremy P. Cheadle
- Book ID
- 117852826
- Publisher
- American Society of Human Genetics
- Year
- 1999
- Tongue
- English
- Weight
- 149 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302381
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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
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