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Case Report: ISG15 deficiency caused by novel variants in t..:

Burleigh, A ; Moraitis, E ; Al Masroori, E...
https://discovery.ucl.ac.uk/id/eprint/10184601/1/Burleigh_fimmu-14-1287258.pdf. , 2023

Link: https://discovery.ucl.ac.uk/id/eprint/10184601/1/Burle..

RT Journal
T1 <Title>Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10184601&Exemplar=1&LAN=DE
				
A1 Burleigh, A
A1 Moraitis, E
A1 Al Masroori, E
A1 Al-Abadi, E
A1 Hong, Y
A1 Omoyinmi, E
A1 Titheradge, H
A1 Stals, K
A1 Jones, WD
A1 Gait, A
A1 Jayarajan, V
A1 Di, WL
A1 Sebire, N
A1 Solman, L
A1 Ogboli, M
A1 Welch, SB
A1 Sudarsanam, A
A1 Wacogne, I
A1 Price-Kuehne, F
A1 Jensen, B
A1 Brogan, PA
A1 Eleftheriou, D
PB Frontiers Media SA
YR 2023
K1 ISG15
K1 ISG15 deficiency
K1 Janus kinase inhibition
K1 baricitinib
K1 interferon
K1 interferonopathy
K1 microdeletion
K1 whole exome sequencing
K1 Humans
K1 Ubiquitins
K1 Cytokines
K1 Interferons
K1 Ubiquitin Thiolesterase
JF https://discovery.ucl.ac.uk/id/eprint/10184601/1/Burleigh_fimmu-14-1287258.pdf
LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10184601/1/Burleigh_fimmu-14-1287258.pdf
DO https://discovery.ucl.ac.uk/id/eprint/10184601/1/Burleigh_fimmu-14-1287258.pdf
SF ELIB - SuUB Bremen

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