Article
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds.
Clinical genetics - 1 May 2012
Wentink M, Nellist M, Hoogeveen-Westerveld M, Zonnenberg B, van der Kolk D, van Essen T, Park S-M, Woods G, Cohn-Hokke P, Brussel W, Smeets E, Brooks A, Halley D, van den Ouweland A, Maat-Kievit A
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by a combination of neurological symptoms and hamartomatous growths, and caused by mutations in the TSC1 and TSC2 genes. Overall, TSC2 mutations are associated with a more severe disease phenotype. We identified the c.3598C>T (R1200W) change in the TSC2 gene in seven different families. The clinical phenotypes in the families were...
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