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Please use this identifier to cite or link to this item: http://bura.brunel.ac.uk/handle/2438/21100
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dc.contributor.authorBalogh, E-
dc.contributor.authorChandler, JC-
dc.contributor.authorVarga, M-
dc.contributor.authorTahoun, M-
dc.contributor.authorMenyhárd, DK-
dc.contributor.authorSchay, G-
dc.contributor.authorGoncalves, T-
dc.contributor.authorHamar, R-
dc.contributor.authorLégrádi, R-
dc.contributor.authorSzekeres, Á-
dc.contributor.authorGribouval, O-
dc.contributor.authorKleta, R-
dc.contributor.authorStanescu, H-
dc.contributor.authorBockenhauer, D-
dc.contributor.authorKerti, A-
dc.contributor.authorWilliams, H-
dc.contributor.authorKinsler, V-
dc.contributor.authorDi, W-L-
dc.contributor.authorCurtis, D-
dc.contributor.authorKolatsi-Joannou, M-
dc.contributor.authorHammid, H-
dc.contributor.authorSzőcs, A-
dc.contributor.authorPerczel, K-
dc.contributor.authorMaka, E-
dc.contributor.authorToldi, G-
dc.contributor.authorSava, F-
dc.contributor.authorArrondel, C-
dc.contributor.authorKardos, M-
dc.contributor.authorFintha, A-
dc.contributor.authorHossain, A-
dc.contributor.authorD’Arco, F-
dc.contributor.authorKaliakatsos, M-
dc.contributor.authorKoeglmeier, J-
dc.contributor.authorMifsud, W-
dc.contributor.authorMoosajee, M-
dc.contributor.authorFaro, A-
dc.contributor.authorJávorszky, E-
dc.contributor.authorRudas, G-
dc.contributor.authorSaied, MH-
dc.contributor.authorMarzouk, S-
dc.contributor.authorKelen, K-
dc.contributor.authorGötze, J-
dc.contributor.authorReusz, G-
dc.contributor.authorTulassay, T-
dc.contributor.authorDragon, F-
dc.contributor.authorMollet, G-
dc.contributor.authorMotameny, S-
dc.contributor.authorThiele, H-
dc.contributor.authorDorval, G-
dc.contributor.authorNürnberg, P-
dc.contributor.authorPerczel, A-
dc.contributor.authorSzabó, AJ-
dc.contributor.authorLong, DA-
dc.contributor.authorTomita, K-
dc.contributor.authorAntignac, C-
dc.contributor.authorWaters, AM-
dc.contributor.authorTory, K-
dc.date.accessioned2020-06-28T18:45:27Z-
dc.date.available2020-06-28T18:45:27Z-
dc.date.issued2020-06-17-
dc.identifier.citationEszter Balogh, Jennifer C. Chandler, Máté Varga, Mona Tahoun, Dóra K. Menyhárd, Gusztáv Schay, Tomas Goncalves, Renáta Hamar, Regina Légrádi, Ákos Szekeres, Olivier Gribouval, Robert Kleta, Horia Stanescu, Detlef Bockenhauer, Andrea Kerti, Hywel Williams, Veronica Kinsler, Wei-Li Di, David Curtis, Maria Kolatsi-Joannou, Hafsa Hammid, Anna Szőcs, Kristóf Perczel, Erika Maka, Gergely Toldi, Florentina Sava, Christelle Arrondel, Magdolna Kardos, Attila Fintha, Ahmed Hossain, Felipe D’Arco, Mario Kaliakatsos, Jutta Koeglmeier, William Mifsud, Mariya Moosajee, Ana Faro, Eszter Jávorszky, Gábor Rudas, Marwa H. Saied, Salah Marzouk, Kata Kelen, Judit Götze, George Reusz, Tivadar Tulassay, François Dragon, Géraldine Mollet, Susanne Motameny, Holger Thiele, Guillaume Dorval, Peter Nürnberg, András Perczel, Attila J. Szabó, David A. Long, Kazunori Tomita, Corinne Antignac, Aoife M. Waters, Kálmán Tory; Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis; Proceedings of the National Academy of Sciences Jun 2020, 202002328;en_US
dc.identifier.issn0027-8424-
dc.identifier.urihttp://bura.brunel.ac.uk/handle/2438/21100-
dc.description.sponsorshipResearch UK Innovation and Project; Cancer Research UKen_US
dc.format.extent202002328 - 202002328-
dc.languageen-
dc.language.isoenen_US
dc.publisherProceedings of the National Academy of Sciencesen_US
dc.subjectPseudouridylationen_US
dc.subjectH/ACA snoRNPen_US
dc.subjectPediatricsen_US
dc.subjectTelomereren_US
dc.subjectRNAen_US
dc.titlePseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitisen_US
dc.typeArticleen_US
dc.identifier.doihttp://dx.doi.org/10.1073/pnas.2002328117-
dc.relation.isPartOfProceedings of the National Academy of Sciences-
pubs.publication-statusPublished online-
dc.identifier.eissn1091-6490-
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