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Private rare deletions in SEC16A and MAMDC4 may represent novel pathogenic variants in familial axial spondyloarthritis

OBJECTIVE: Axial spondyloarthritis (AxSpA) represents a group of inflammatory axial diseases that share common clinical and histopathological manifestations. Ankylosing spondylitis (AS) is the best characterised subset of AxSpA, and its genetic basis has been extensively investigated. Given that gen...

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Detalles Bibliográficos
Autores principales: O'Rielly, Darren D, Uddin, Mohammed, Codner, Dianne, Hayley, Michael, Zhou, Jiayi, Pena-Castillo, Lourdes, Mostafa, Ahmed A, Hasan, S M Mahmudul, Liu, William, Haroon, Nigil, Inman, Robert, Rahman, Proton
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819618/
https://www.ncbi.nlm.nih.gov/pubmed/25956157
http://dx.doi.org/10.1136/annrheumdis-2014-206484