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Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His

Expression of p.Arg117His cystic fibrosis (CF) transmembrane conductance regulator is influenced by a polythymidine (poly-T) tract and a thymidine–guanine (TG) repeat on intron 9, which vary in length and affect exon 10 skipping. We compared clinical characteristics and the rate of progression of lu...

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Detalles Bibliográficos
Autores principales:	Shteinberg, Michal, Downey, Damian G., Beattie, Diane, McCaughan, John, Reid, Alastair, Stein, Nili, Elborn, J. Stuart
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	European Respiratory Society 2017
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566269/ https://www.ncbi.nlm.nih.gov/pubmed/28845426 http://dx.doi.org/10.1183/23120541.00056-2016

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