Title
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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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Author
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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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Language
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English
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Source (journal)
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Epilepsy research. - Amsterdam
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Publication
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Amsterdam
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2012
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ISSN
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0920-1211
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DOI
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10.1016/J.EPLEPSYRES.2011.12.009
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Volume/pages
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99
:3
(2012)
, p. 346-349
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ISI
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000304510200018
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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