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Cystic fibrosis mutation

If the incidence of cystic fibrosis is 1/2,500 among a population of Europeans, what is the predicted incidence of heterozygous carriers of a cystic fibrosis mutation in this population ... [Pg.306]

Cronin, M.T., Fucini, R.V., Kim, S.M., Masino, R.S., Wespi, R.M. and Miyada, C.G. (1996) Cystic Fibrosis mutation detection by hybridization to hght-generated DNA probe arrays. Human Mutation, 7 244-255. [Pg.374]

Sato S, Ward CL, Krouse ME, Wine JJ, Kopito RR. Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation. J. Biol. Chem. 1996 271 635-638. [Pg.2269]

Burke W, Aitken ML, Chen SH, Scott CR. Variable severity of pulmonary disease in adults with identical cystic fibrosis mutations. Chest 1992 102 506-9. [Pg.1518]

Cystic Fibrosis Mutation Database, www.genet.sick-kids.on.ca/cftr/. [Pg.1519]

Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel. Genet in Med 2001 3 168-76. [Pg.1523]

Palomaki GE, Haddow JE, Bradley LA, FitzSimmons SC. Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet in Med 2002 4 90-4. [Pg.1530]

I, 4-dihydropyridines as correctors of the cystic fibrosis transmembrane conductance regulator channel gating defect caused by cystic fibrosis mutations. Mol. Pharmacol. 2005, 68, 1736-1746. [Pg.104]

Heinonen, P., Iitia, A., Torresani, T., and Lovgren, T. (1997) Simple triple label detection of seven cystic fibrosis mutations by time resolved fluorometry. Clinical Chemistry, 43, 1142 1150. [Pg.368]

Phillips OP, Bishop C, Woods D, Ehas S. Cystic fibrosis mutations among African Americans in the southeastern United States. J Natl Med Assoc 1995 87 433. [Pg.135]

Chehab, F. F. and Wall, F. (1992) Detection of multiple cystic fibrosis mutations by reverse dot blot hybridization a technology for carrier screening. Hum. Genetics 99, 163-168. [Pg.236]


See other pages where Cystic fibrosis mutation is mentioned: [Pg.147]    [Pg.215]    [Pg.24]    [Pg.290]    [Pg.314]    [Pg.137]    [Pg.138]    [Pg.1546]    [Pg.342]    [Pg.168]    [Pg.65]    [Pg.234]    [Pg.23]    [Pg.480]    [Pg.481]   
See also in sourсe #XX -- [ Pg.177 ]




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