참고문헌 (21)

1. 1 Cystic Fibrosis Mutation Database The Cystic Fibrosis Genetic Analysis Consortium http://www.genet.sickkids.on.ca/cftr 

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6. 6 Moon HR Ko TS Ko YY Choi JH Kim YC Cystic fibrosis: A case presented with recurrent bronchiolitis in infancy in a Korean male infant J Korean Med Sci 1988 3 157 162 3267364 

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8. 8 Schales O Schales SS A simple and accurate method for the determination of chloride in biological fluids J Biol Chem 1941 140 879 884 

9. 9 Lee JH Choi JH Namkung W Hanrahan JW Chang J Song SY Park SW Kim DS Yoon JH Suh Y Jang IJ Nam JH Kim SJ Cho MO Lee JE Kim KH Lee MG A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases Hum Mol Genet 2003 12 2321 2332 12952861 

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10. 10 Cystic Fibrosis Foundation Patient Registry 1996 annual data report 1997 

11. 11 di Sant'Agnese PA Darling RC Perera GA Shea E Sweat electrolyte disturbances associated with childhood pancreatic disease Am J Med 1953 15 777 784 13104449 

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13. 13 Welsh MJ Ramsey BW Accurso F Cutting GR Scriver CR Beaudet AL Sly WS Valle D Cystic fibrosis The metabolic and Molecular Bases of Inherited Disease 2001 8th ed New York McGraw Hill 5136 5139 

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15. 15 Lemna WK Feldman GL Kerem BS Fernbach SD Zevkovich EP O'Brien WE Riordan JR Collins FS Tsui LC Beaudet AL Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis N Engl J Med 1990 322 291 296 2296270 

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16. 16 Wong LJ Alper OM Wang BT Lee MH Lo SY Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations Am J Med Genet 2003 120 296 298 12833420 

17. 17 Tsui LC The spectrum of cystic fibrosis mutations Trends Genet 1992 8 392 398 1279852 

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18. 18 Cuppens H Lin W Jaspers M Costes B Teng H Vankeerberghen A Jorissen M Droogmans G Reynaert I Goossens M Nilius B Cassiman JJ Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (TG)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation J Clin Invest 1998 101 487 496 9435322 

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19. 19 Feldmann D Laroze F Troadec C Clement A Tournier G Couderc R A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene Hum Mutat 2001 17 356 11295849 

20. 20 Groman JD Meyer ME Wilmott RW Zeitlin PL Cutting GR Variant cystic fibrosis phenotypes in the absence of CFTR mutations N Engl J Med 2002 347 401 407 12167682 

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21. 21 Stewart B Zabner J Shuber AP Welsh MJ McCray PB Jr Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis Am J Respir Crit Care Med 1995 151 899 903 7533604 

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