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Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants

dc.contributor.authorTummala, Hen_US
dc.contributor.authorDokal, ADen_US
dc.contributor.authorWalne, Aen_US
dc.contributor.authorEllison, Aen_US
dc.contributor.authorCardoso, Sen_US
dc.contributor.authorAmirthasigamanipillai, Sen_US
dc.contributor.authorKirwan, Men_US
dc.contributor.authorBrowne, Ien_US
dc.contributor.authorSidhu, JKen_US
dc.contributor.authorRajeeve, Ven_US
dc.contributor.authorRio-Machin, Aen_US
dc.contributor.authorAl Seraihi, Aen_US
dc.contributor.authorDuncombe, ASen_US
dc.contributor.authorJenner, Men_US
dc.contributor.authorSmith, OPen_US
dc.contributor.authorEnright, Hen_US
dc.contributor.authorNorton, Aen_US
dc.contributor.authorAksu, Ten_US
dc.contributor.authorOzbek, NYen_US
dc.contributor.authorPontikos, Nen_US
dc.contributor.authorCutillas, Pen_US
dc.contributor.authorDokal, Ien_US
dc.contributor.authorVulliamy, Ten_US
dc.date.accessioned2018-08-06T08:35:29Z
dc.date.available2018-06-21en_US
dc.date.issued2018-07-24en_US
dc.date.submitted2018-07-29T16:37:53.280Z
dc.identifier.issn0027-8424en_US
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/43003
dc.description.sponsorshipBloodwise Program Grant (14032) and the Medical Research Council Research Grant (MR/P018440).en_US
dc.format.extent7777 - 7782en_US
dc.language.isoenen_US
dc.relation.ispartofPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICAen_US
dc.rightsThis open access article is distributed under Creative Commons Attribution-NonCommercialNoDerivatives License 4.0 (CC BY-NC-ND).
dc.subjectERCC6L2en_US
dc.subjectDNA PKen_US
dc.subjecttranscriptionen_US
dc.subjectDNA repairen_US
dc.subjectR loopsen_US
dc.titleGenome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variantsen_US
dc.typeArticle
dc.identifier.doi10.1073/pnas.1803275115en_US
pubs.author-urlhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000439574700059&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.issue30en_US
pubs.notesNo embargoen_US
pubs.publication-statusPublisheden_US
pubs.volume115en_US


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