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

Internet

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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