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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BMJ Publishing Group
2016
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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 |
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