Zobrazeno 1 - 7
of 7
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
Publikováno v:
HUMAN GENETICS. 98(3):304-9
Cystic fibrosis (CF) patients with the A455E mutation, in both the French Canadian and the Dutch population, share a common haplotype over distances of up to 25 cM. French Canadian patients with the 621+1G-->T mutation share a common haplotype of mor
Autor:
G. J. Te Meerman, M. A. Van Der Meulen, Charles H.C.M. Buys, H. de Vries, Hans Scheffer, L.P. ten Kate, Dicky J. J. Halley, R. Rozen
Publikováno v:
HUMAN GENETICS, 98(3), 304-309. SPRINGER
HUMAN GENETICS, 98(3), 304-9. SPRINGER
HUMAN GENETICS, 98(3), 304-9. SPRINGER
Cystic fibrosis (CF) patients with the A455E mutation, in both the French Canadian and the Dutch population, share a common haplotype over distances of up to 25 cM. French Canadian patients with the 621+1G-->T mutation share a common haplotype of mor
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
Autor:
Jeffrey D. Wall, Fand F. Chehab
Publikováno v:
Human genetics. 89(2)
We describe the implementation of a modified version of the reverse dot blot hybridization technology to detect eight cystic fibrosis mutations. The method is simple, quick, reliable, inexpensive, and nonradioactive and utilizes the sensitivity of th
Publikováno v:
Human genetics. 89(2)
Cystic fibrosis (CF) is an autosomal recessive disease caused by different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the major mutation (delta F508) in the Hungarian population is 64%. To ident