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A **de novo** balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA
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| Abstract |
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| In a male patient with West Syndrome we identified a perfectly balanced, de novo balanced translocation 46,XY,t(2;6)(p15;p22.3). No known protein coding genes were disrupted by the translocation and positional effects on nearby genes were excluded by expression studies. A putative long non-coding RNA, BX118339, spans the breakpoint on chromosome 6. It can be hypothesized that disruption of this non-coding transcript plays a role in the pathogenesis of the patient. (C) 2011 Elsevier B.V. All rights reserved. | |
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English
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Epilepsy research. - Amsterdam |
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| Publication |
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Amsterdam : 2012
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0920-1211
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99:3(2012), p. 346-349
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| ISI |
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000304510200018
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