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Autor:
Emmanuel Kanavakis, Thalia Antoniadi, Joanne Traeger-Synodinos, Nikos Matsaniotis, Christos Kattamis, Maria Tzetis, George Adam, Stavros Doudounakis
Publikováno v:
Human genetics. 96(3)
To initiate the complete characterization of mutations in the CFTR gene in Greek cystic fibrosis (CF) patients, we screened 184 patients for six relatively common mutations (delta F 508, G542X, G551D, 621 + 1 G-->T, N1303K, W1282X) using allele-speci