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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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Detalhes bibliográficos
Publicado no:Nat Genet
Main Authors: Capellini, Terence D., Chen, Hao, Cao, Jiaxue, Doxey, Andrew C., Kiapour, Ata M., Schoor, Michael, Kingsley, David M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6556117/
https://ncbi.nlm.nih.gov/pubmed/28671685
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3911
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