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Arg206Cys substitution in DNASE1L3 causes a defect in DNASE1L3 protein secretion that confers risk of systemic lupus erythematosus

OBJECTIVES: To determine if the polymorphism encoding the Arg206Cys substitution in DNASE1L3 explains the association of the DNASE1L3/PXK gene locus with systemic lupus erythematosus (SLE) and to examine the effect of the Arg206Cys sequence change on DNASE1L3 protein function. METHODS: Conditional a...

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Detalles Bibliográficos
Autores principales: Coke, Latanya N, Wen, Hongxiu, Comeau, Mary, Ghanem, Mustafa H, Shih, Andrew, Metz, Christine N, Li, Wentian, Langefeld, Carl D, Gregersen, Peter K, Simpfendorfer, Kim R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8142439/
https://www.ncbi.nlm.nih.gov/pubmed/33455918
http://dx.doi.org/10.1136/annrheumdis-2020-218810