Article
Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis.
Joint bone spine - 1 Nov 2022
Mambueni Hendrick Mambu, Hue Christophe, Jobart-Malfait Aude, Said-Nahal Roula, El Hafci Hanane, Petite Hervé, Nich Christophe, Breban Maxime, Costantino Félicie, Garchon Henri-Jean
Abstract excerpt
OBJECTIVES: The strong heritability of spondyloarthritis remains poorly explained, despite several large-scale association studies. A recent linkage analysis identified a new region linked to SpA on 13q13. Here we searched for variants potentially explaining this linkage signal by deep-sequencing of the region. METHODS: Re-sequencing of the 1.4 Mb target interval was performed in 92 subjects from the 43...
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