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Science 8 September 1989:
Vol. 245. no. 4922, pp. 1073 - 1080
DOI: 10.1126/science.2570460
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Articles

Science, Vol 245, Issue 4922, 1073-1080
Copyright © 1989 by American Association for the Advancement of Science

articles

Identification of the cystic fibrosis gene: genetic analysis

B Kerem, JM Rommens, JA Buchanan, D Markiewicz, TK Cox, A Chakravarti, M Buchwald, and LC Tsui

Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.

Approximately 70 percent of the mutations in cystic fibrosis patients correspond to a specific deletion of three base pairs, which results in the loss of a phenylalanine residue at amino acid position 508 of the putative product of the cystic fibrosis gene. Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations. A small set of these latter mutant alleles (about 8 percent) may confer residual pancreatic exocrine function in a subgroup of patients who are pancreatic sufficient. The ability to detect mutations in the cystic fibrosis gene at the DNA level has important implications for genetic diagnosis.


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A. Werner, M. E. J. Bongers, M. J. Bijvelds, H. R. de Jonge, and H. J. Verkade (2004)
J. Lipid Res. 45, 2277-2286
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AlgX Is a Periplasmic Protein Required for Alginate Biosynthesis in Pseudomonas aeruginosa.
A. Robles-Price, T. Y. Wong, H. Sletta, S. Valla, and N. L. Schiller (2004)
J. Bacteriol. 186, 7369-7377
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Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens.
A. Grangeia, F. Niel, F. Carvalho, S. Fernandes, A. Ardalan, E. Girodon, J. Silva, L. Ferras, M. Sousa, and A. Barros (2004)
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Mechanism of activation of Xenopus CFTR by stimulation of PKC.
Y. Chen, G. A. Altenberg, and L. Reuss (2004)
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K. Hentchel-Franks, D. Lozano, V. Eubanks-Tarn, B. Cobb, L. Fan, R. Oster, E. Sorscher, and J. P. Clancy (2004)
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P. C. Zamecnik, M. K. Raychowdhury, D. R. Tabatadze, and H. F. Cantiello (2004)
PNAS 101, 8150-8155
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T. Okiyoneda, K. Harada, M. Takeya, K. Yamahira, I. Wada, T. Shuto, M. A. Suico, Y. Hashimoto, and H. Kai (2004)
Mol. Biol. Cell 15, 563-574
   Abstract »    Full Text »    PDF »
Modulation of Mature Cystic Fibrosis Transmembrane Regulator Protein by the PDZ Domain Protein CAL.
J. Cheng, H. Wang, and W. B. Guggino (2004)
J. Biol. Chem. 279, 1892-1898
   Abstract »    Full Text »    PDF »
Antimicrobial Susceptibility and Synergy Studies of Stenotrophomonas maltophilia Isolates from Patients with Cystic Fibrosis.
P. San Gabriel, J. Zhou, S. Tabibi, Y. Chen, M. Trauzzi, and L. Saiman (2004)
Antimicrob. Agents Chemother. 48, 168-171
   Abstract »    Full Text »    PDF »
New concepts of the pathogenesis of cystic fibrosis lung disease.
R.C. Boucher (2004)
Eur. Respir. J. 23, 146-158
   Abstract »    Full Text »    PDF »
Revisiting Cystic Fibrosis Transmembrane Conductance Regulator Structure and Function.
J. W. Hanrahan and M.-A. Wioland (2004)
Proceedings of the ATS 1, 17-21
   Abstract »    Full Text »    PDF »
Multicenter Characterization and Validation of the Intron-8 Poly(T) Tract (IVS8-T) Status in 25 Coriell Cell Repository Cystic Fibrosis Reference Cell Lines for Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation Assays.
S. Sebastian, S. G. Spitzer, L. E. Grosso, J. Amos, F. V. Schaefer, E. Lyon, D. J. Wolff, A. Hajianpour, A. K. Taylor, A. Millson, et al. (2004)
Clin. Chem. 50, 251-254
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