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Article

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

Annals of the rheumatic diseases - 1 Apr 2016

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

Abstract excerpt

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 genome-wide association studies account for only 25% of AS heritability, the objective of this study was to discover...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25956157
DOI: 10.1136/annrheumdis-2014-206484
PMCID: PMC4819618

Genes

MAMDC4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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