Article
Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.
BMC medical genetics - 25 Feb 2015
Nellist Mark, Brouwer Rutger W W, Kockx Christel E M, van Veghel-Plandsoen Monique, Withagen-Hermans Caroline, Prins-Bakker Lida, Hoogeveen-Westerveld Marianne, Mrsic Alan, van den Berg Mike M P, Koopmans Anna E, de Wit Marie-Claire, Jansen Floor E, Maat-Kievit Anneke J A, van den Ouweland Ans, Halley Dicky, de Klein Annelies, van IJcken Wilfred F J
Abstract excerpt
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in TSC1 and TSC2. Conventional DNA diagnostic screens identify a TSC1 or TSC2 mutation in 75 - 90% of individuals categorised with definite TSC. The remaining individuals either have a mutation that is undetectable using conventional methods, or possibly a mutation in another as yet unidentified gene. METHODS: Here...
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