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pro vyhledávání: '"621"'
Publikováno v:
Human Genetics. 109:592-601
The effects of four splicing mutations and one nonsense mutation on cystic fibrosis transmembrane conductance regulator ( CFTR) gene expression were investigated by reverse transcription-polymerase chain reaction analysis of mRNA extracted from nasal
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
Autor:
Peter Entzian, Eberhard Schwinger, Andreas Artlich, Susanna Bunge, Arnulf Boysen, Max Schlaak
Publikováno v:
Human Genetics. 95
The frequency of six common mutations in the cystic fibrosis transmembrane conductance regulator gene was studied in 100 patients hospitalized with chronic bronchitis. Only one patient with chronic bronchitis and diffuse bronchiectasis was heterozygo