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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Bibliografiska uppgifter
I publikationen:Nat Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2015
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Article
Länkar: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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