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Appendix
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Literature
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go back to reference Poulter JA, Savic S. Genetics of somatic auto-inflammatory disorders. Semin Hematol. 2021. Poulter JA, Savic S. Genetics of somatic auto-inflammatory disorders. Semin Hematol. 2021.
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go back to reference Zhao LP, Schell B, Sebert M, Kim R, Lemaire P, Boy M, et al. Prevalence of UBA1 mutations in MDS/CMML patients with systemic inflammatory and auto-immune disease. Leukemia. 2021;35(9):2731–3.CrossRef Zhao LP, Schell B, Sebert M, Kim R, Lemaire P, Boy M, et al. Prevalence of UBA1 mutations in MDS/CMML patients with systemic inflammatory and auto-immune disease. Leukemia. 2021;35(9):2731–3.CrossRef
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go back to reference Carrel L, Clemson CM, Dunn JM, Miller AP, Hunt PA, Lawrence JB, et al. X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. Hum Mol Genet. 1996;5(3):391–401.CrossRef Carrel L, Clemson CM, Dunn JM, Miller AP, Hunt PA, Lawrence JB, et al. X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. Hum Mol Genet. 1996;5(3):391–401.CrossRef
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go back to reference Rossignol J, Marzac C, Dellal A, Belfeki N, Jachiet V, Slaoui M, et al. UBA1 gene mutation in giant cell arteritis. Clin Rheumatol. 2022. Rossignol J, Marzac C, Dellal A, Belfeki N, Jachiet V, Slaoui M, et al. UBA1 gene mutation in giant cell arteritis. Clin Rheumatol. 2022.
Metadata
Title
A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts
Authors
James Poulter
Ann Morgan
Catherine Cargo
Sinisa Savic
UKGCA/VEXAS Consortium
Publication date
02-04-2022
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 5/2022
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-022-01258-w

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