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 en: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: 2015
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Article
Acceso en liña: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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