Panel sequencing links rare, likely damaging gene variants with distinct clinical phenotypes and outcomes in juvenile-onset SLE

OBJECTIVES: Juvenile-onset systemic lupus erythematosus (jSLE) affects 15–20% of lupus patients. Clinical heterogeneity between racial groups, age groups and individual patients suggests variable pathophysiology. This study aimed to identify highly penetrant damaging mutations in genes associated wi...

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Detalles Bibliográficos
Autores principales: Charras, Amandine, Haldenby, Sam, Smith, Eve M D, Egbivwie, Naomi, Olohan, Lisa, Kenny, John G, Schwarz, Klaus, Roberts, Carla, Al-Abadi, Eslam, Armon, Kate, Bailey, Kathryn, Ciurtin, Coziana, Gardner-Medwin, Janet, Haslam, Kirsty, Hawley, Daniel P, Leahy, Alice, Leone, Valentina, McErlane, Flora, Modgil, Gita, Pilkington, Clarissa, Ramanan, Athimalaipet V, Rangaraj, Satyapal, Riley, Phil, Sridhar, Arani, Beresford, Michael W, Hedrich, Christian M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Basic Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9949710/
https://www.ncbi.nlm.nih.gov/pubmed/35532072
http://dx.doi.org/10.1093/rheumatology/keac275

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9949710/
https://www.ncbi.nlm.nih.gov/pubmed/35532072
http://dx.doi.org/10.1093/rheumatology/keac275

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