Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
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| Description | scientific article published on 17 June 2020 |
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author: Géraldine Mollet Mariya Moosajee Robert Kleta Olivier Gribouval Eszter Balogh Mario Kaliakatsos Marwa H Saied Susanne Motameny George S Reusz Anna Szőcs Ana Faro Kazunori Tomita Attila J Szabó William Mifsud Wei-Li Di Magdolna Kardos Tivadar Tulassay Felice D'Arco Detlef Bockenhauer Peter Nürnberg Florentina Sava François Dragon Guillaume Dorval Jutta Koeglmeier Kalman Tory Attila Fintha Erika Maka Eszter Jávorszky Gusztáv G. Schay Aoife M Waters Maria Kolatsi-Joannou Regina Légrádi David A Long Corinne Antignac Jennifer C Chandler David Curtis Máté Varga Gergely Toldi |
| Publication date | June 17, 2020 |
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