Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis
Balogh, Eszter; Chandler, Jennifer C.; Varga, Máté; Tahoun, Mona; Menyhárd, Dóra K.; Schay, Gusztáv; Goncalves, Tomas; Hamar, Renáta; Légrádi, Regina; Szekeres, Ákos; Gribouval, Olivier; Kleta, Robert; Stanescu, Horia; Bockenhauer, Detlef; Kerti, Andrea; Williams, Hywel; Kinsler, Veronica; Di, Wei-Li; Curtis, David; Kolatsi-Joannou, Maria; Hammid, Hafsa; Szőcs, Anna; Perczel, Kristóf; Maka, Erika; Toldi, Gergely; Sava, Florentina; Arrondel, Christelle; Kardos, Magdolna; Fintha, Attila; Hossain, Ahmed; D’Arco, Felipe; Kaliakatsos, Mario; Koeglmeier, Jutta; Mifsud, William; Moosajee, Mariya; Faro, Ana; Jávorszky, Eszter; Rudas, Gábor; Saied, Marwa H.; Marzouk, Salah; Kelen, Kata; Götze, Judit; Reusz, George; Tulassay, Tivadar; Dragon, François; Mollet, Géraldine; Motameny, Susanne; Thiele, Holger; Dorval, Guillaume; Nürnberg, Peter; Perczel, András; Szabó, Attila J.; Long, David A.; Tomita, Kazunori; Antignac, Corinne; Waters, Aoife M.; Tory, Kálmán
Folyóiratcikk
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
vol.:117,
issue.:26,
p.:15137-15147.
ISSN: 0027-8424
WoS ID:
000565729700015
PubMed ID:
32554502
Megjelenés éve:
2020
Teljes nézet
