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• W2138868511 endingPage "461" @default.
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• W2138868511 abstract "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. Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. 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 mild, characterized by mild skin lesions, remitting epilepsy and a lack of severe mental retardation or major organ involvement. Functional analysis of the TSC2 R1200W variant, and four other TSC2 missense variants associated with a mild TSC phenotype, confirmed that the changes disrupted the TSC1–TSC2 function. Interestingly however, in each case, the TSC1–TSC2 interaction was not affected by the amino acid substitution." @default.
• W2138868511 created "2016-06-24" @default.
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• W2138868511 date "2011-03-10" @default.
• W2138868511 modified "2023-09-25" @default.
• W2138868511 title "Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds" @default.
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• W2138868511 doi "https://doi.org/10.1111/j.1399-0004.2011.01648.x" @default.
• W2138868511 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21332470" @default.
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