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

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Shteinberg, Michal; Downey, Damian G.; Beattie, Diane; McCaughan, John; Reid, Alastair; Stein, Nili; Elborn, J. Stuart;

<p>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 ... View more
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