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

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Michal Shteinberg; Damian G. Downey; Diane Beattie; John McCaughan; Alastair Reid; Nili Stein; J. Stuart Elborn;
(2017)

<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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