Albuquerque, Adriana S;
Maimaris, Jesmeen;
McKenna, Alexander J;
Lambourne, Jonathan;
Moreira, Fernando;
Workman, Sarita;
Megy, Karyn;
... Burns, Siobhan O; + view all
(2023)
Practical challenges for functional validation of STAT1 gain of function genetic variants.
Clinical & Experimental Immunology
, 212
(2)
pp. 166-169.
10.1093/cei/uxad008.
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| Type: | Article |
|---|---|
| Title: | Practical challenges for functional validation of STAT1 gain of function genetic variants |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1093/cei/uxad008 |
| Publisher version: | https://doi.org/10.1093/cei/uxad008 |
| Language: | English |
| Additional information: | © The Author(s) 2023. Published by Oxford University Press on behalf of the British Society for Immunology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | STAT1, chronic mucocutaneous candidiasis, flow cytometry, gain-of-function, primary immunodeficiency, variants of unknown significance |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Infection and Immunity |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10164685 |
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