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Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk

Variants in GDF5 are associated with human arthritis and height reduction, but the causal mutations are still unknown. We surveyed GDF5 for regulatory regions in transgenic mice, and fine-mapped separate enhancers controlling expression in joints versus growing ends of long bones. A large downstream...

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Detalles Bibliográficos
Autores principales: Capellini, Terence D., Chen, Hao, Cao, Jiaxue, Doxey, Andrew C., Kiapour, Ata M., Schoor, Michael, Kingsley, David M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556117/
https://www.ncbi.nlm.nih.gov/pubmed/28671685
http://dx.doi.org/10.1038/ng.3911