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Pseudouridylation defect due to DKC1 and NOP10 mutations ca..:

Balogh, Eszter ; Chandler, Jennifer C. ; Varga, Máté...
Proceedings of the National Academy of Sciences of the United States of America. 117 (2020) 26 - p. 15137-15147 , 2020

Link: https://www.jstor.org/stable/26935064

RT Journal
T1 <Title>Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis</Title>

UL https://suche.suub.uni-bremen.de/peid=jstor-26935064&Exemplar=1&LAN=DE
				
A1 Balogh, Eszter
A1 Chandler, Jennifer C.
A1 Varga, Máté
A1 Tahoun, Mona
A1 Menyhárd, Dóra K.
A1 Schay, Gusztáv
A1 Goncalves, Tomas
A1 Hamar, Renáta
A1 Légrádi, Regina
A1 Szekeres, Akos
A1 Gribouval, Olivier
A1 Kleta, Robert
A1 Stanescu, Horia
A1 Bockenhauer, Detlef
A1 Kerti, Andrea
A1 Williams, Hywel
A1 Kinsler, Veronica
A1 Di, Wei-Li
A1 Curtis, David
A1 Kolatsi-Joannou, Maria
A1 Hammid, Hafsa
A1 Szőcs, Anna
A1 Perczel, Kristóf
A1 Maka, Erika
A1 Toldi, Gergely
A1 Sava, Florentina
A1 Arrondel, Christelle
A1 Kardos, Magdolna
A1 Fintha, Attila
A1 Hossain, Ahmed
A1 D'Arco, Felipe
A1 Kaliakatsos, Mario
A1 Koeglmeier, Jutta
A1 Mifsud, William
A1 Moosajee, Mariya
A1 Faro, Ana
A1 Jávorszky, Eszter
A1 Rudas, Gábor
A1 Saied, Marwa H.
A1 Marzouk, Salah
A1 Kelen, Kata
A1 Götze, Judit
A1 Reusz, George
A1 Tulassay, Tivadar
A1 Dragon, François
A1 Mollet, Géraldine
A1 Motameny, Susanne
A1 Thiele, Holger
A1 Dorval, Guillaume
A1 Nürnberg, Peter
A1 Perczel, András
A1 Szabó, Attila J.
A1 Long, David A.
A1 Tomita, Kazunori
A1 Antignac, Corinne
A1 Waters, Aoife M.
A1 Tory, Kálmán
PB National Academy of Sciences
YR 2020
SN 0027-8424
SN 1091-6490
JF Proceedings of the National Academy of Sciences of the United States of America
VO 117
IS 26
SP 15137
OP 15147
LK http://dx.doi.org/https://www.jstor.org/stable/26935064
DO https://www.jstor.org/stable/26935064
SF ELIB - SuUB Bremen

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