A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression

Osteoarthritis (OA) is a polygenic disease characterized by cartilage loss, with the single-nucleotide polymorphism (SNP) rs143383 (C/T) influencing OA susceptibility across a range of ethnic groups. The SNP resides within the 5′-UTR of the growth and differentiation factor 5 gene (GDF5), with the O...

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Detalles Bibliográficos
Autores principales: Dodd, Andrew W, Syddall, Catherine M, Loughlin, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641375/
https://www.ncbi.nlm.nih.gov/pubmed/22929025
http://dx.doi.org/10.1038/ejhg.2012.197

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641375/
https://www.ncbi.nlm.nih.gov/pubmed/22929025
http://dx.doi.org/10.1038/ejhg.2012.197

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