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" A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med 1994; 331:974-980. "
NIH Consensus Development Conference on Genetic Testing for Cystic Fibrosis ... - Página 20
1997 - 107 páginas
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Pharmacogenetics

Wendell W. Weber - 1997 - 344 páginas
...JC, Boat TE, Spock A, Gorvoy JD, Quittell L, Friedman LM, Silverman LM, Boucher RC, Knowles MR. 1994. A novel mutation in the cystic fibrosis gene in patients...normal sweat chloride concentrations. N Engl J Med 331:974-980. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui...
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La mucoviscidose de l'enfant à l'adulte

Jocelyne Derelle - 1998 - 252 páginas
...Olsen JC, Boat TE, Spock A, Gorvoy 3D, Quittell L, Friedman KJ, Silverman LM, Boucher RC, Knowles MR. A novel mutation in the cystic fibrosis gene in patients...normal sweat chloride concentrations. N Engl J Med 1994 ; 331 : 9754-980. 3. Rommens JM, lannuzi MC, Kerem B, Drum ML, MelmerG. Dean M. Rozmahel R. Cole...
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Cystic Fibrosis: A State-of-the-Art Series

S. Karger AG, Karger - 2001 - 702 páginas
...WE, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel L, Friedman KJ, Silverman LM, et al: A novel mutation in the cystic fibrosis gene...normal sweat chloride concentrations. N Engl J Med 1994;331: 974-980. 1 7 Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui L, Durie P: Genetic...
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Molecular Testing in Laboratory Medicine: Selections from Clinical Chemistry ...

David E. Bruns, Y. M. Dennis Lo, Carl Wittwer - 2002 - 361 páginas
...York: McGraw-Hill, 1995: 3799-876. 6. Highsmith WE Jr, Burch LH, Zhou Z, Olsen JC, Boat TE, Spock A, et al. A novel mutation in the cystic fibrosis gene...normal sweat chloride concentrations. N Engl J Med 1994:331:974-80. 7. Gan KH, Veeze H, van den Ouwelan AMW, Halley DJJ, Scheffer H, van der Hout A, et...
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The Cystic Fibrosis Transmembrane Conductance Regulator

Kevin L. Kirk, David C. Dawson - 2003 - 215 páginas
...resulting from three different mutations in the CFTR gene. Hum Mol Genet 1993; 2:689-92. 15. Highsmith WE, Burch LH, Zhou Z et al. A novel mutation in the cystic...normal sweat chloride concentrations. N Engl J Med 1994; 331:974-80. 16. Howard M, Frizzell RA, Bedwell DM. Aminoglycoside antibiotics restore CFTR function...
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González Sastre, F., Patología molecular ©2003

Francesc González-Sastre - 2003 - 701 páginas
...cystic Fibrosis patients of Native American origin. Hum Genet 1994; 94: 629-632. 106. Highsmith WE, Burch LH, Zhou Z et al. A novel mutation in the cystic...normal sweat chloride concentrations. N Engl J Med 1994; 331: 974-980. 107. CremonesiL, Ferrari M, Belloni E et al. Four new mutations of the CFTR gene...
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Regulation of Alternative Splicing

Philippe Jeanteur - 2002 - 245 páginas
...UH, Zhou Z, Olsen JC, Boat TE, Spock A, Gorvoy JD, Quittel U, Friedman KJ, Silverman UM et al. (1994) A novel mutation in the cystic fibrosis gene in patients...normal sweat chloride concentrations. N Engl J Med 331:974—980 Hutton M (2001) Missense and splice site mutations in tau associated with FTDP-l7: multiple...
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