Height-reducing variants and selection for short stature in Sardinia

We report sequencing-based whole-genome association analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the island of Sardinia. We identified two variants with large effects. One is a stop codon in the GHR gene, relatively frequent in Sardinia (0.87% vs &l...

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Publicado no:Nat Genet
Main Authors: Zoledziewska, Magdalena, Sidore, Carlo, Chiang, Charleston W. K., Sanna, Serena, Mulas, Antonella, Steri, Maristella, Busonero, Fabio, Marcus, Joseph H., Marongiu, Michele, Maschio, Andrea, Ortega Del Vecchyo, Diego, Floris, Matteo, Meloni, Antonella, Delitala, Alessandro, Concas, Maria Pina, Murgia, Federico, Biino, Ginevra, Vaccargiu, Simona, Nagaraja, Ramaiah, Lohmueller, Kirk E., Timpson, Nicholas J., Soranzo, Nicole, Tachmazidou, Ioanna, Dedoussis, George, Zeggini, Eleftheria, Uzzau, Sergio, Jones, Chris, Lyons, Robert, Angius, Andrea, Abecasis, Gonçalo R., Novembre, John, Schlessinger, David, Cucca, Francesco
Formato: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4627578/
https://ncbi.nlm.nih.gov/pubmed/26366551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3403
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