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CFTR mutation analysis and haplotype associations in CF patients

✍ Scribed by S.K. Cordovado; M. Hendrix; C.N. Greene; S. Mochal; M.C. Earley; P.M. Farrell; M. Kharrazi; W.H. Hannon; P.W. Mueller

Book ID
116989484
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
672 KB
Volume
105
Category
Article
ISSN
1096-7192

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Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the delta F508 mutation was 58% in this population, and that the frequency of the B (i