Article
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
Human mutation - 1 Oct 2005
Rendtorff Nanna D, Bjerregaard Bolette, Frödin Morten, Kjaergaard Susanne, Hove Hanne, Skovby Flemming, Brøndum-Nielsen Karen, Schwartz Marianne
Abstract excerpt
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-TSC1 and TSC2-is the cause of this syndrome, with TSC2 mutations accounting for 80-90% of all mutations. Molecular...
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