Ontology highlight
ABSTRACT:
SUBMITTER: Nellist M
PROVIDER: S-EPMC4422413 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Nellist Mark M Brouwer Rutger W W RW Kockx Christel E M CE van Veghel-Plandsoen Monique M Withagen-Hermans Caroline C Prins-Bakker Lida L Hoogeveen-Westerveld Marianne M Mrsic Alan A van den Berg Mike M P MM Koopmans Anna E AE de Wit Marie-Claire MC Jansen Floor E FE Maat-Kievit Anneke J A AJ van den Ouweland Ans A Halley Dicky D de Klein Annelies A van IJcken Wilfred F J WF
BMC medical genetics 20150225
<h4>Background</h4>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.<h4>Methods</h4>Here we apply a targeted Next Generation Sequencing (NGS) approach to screen ...[more]