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Volumn 101, Issue 5, 1998, Pages 851-855

Buccal cell DNA mutation analysis for diagnosis of cystic fibrosis in newborns and infants inaccessible to sweat chloride measurement

Author keywords

CFTR; Cystic fibrosis; DNA mutation analysis; Pilocarpine iontophoresis; Premature newborn; Sweat chloride

Indexed keywords

CELL DNA; PILOCARPINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0031949094     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.101.5.851     Document Type: Article
Times cited : (19)

References (14)
  • 2
    • 0020057784 scopus 로고
    • Sweating in preterm babies
    • Harpin VA, Rutter N. Sweating in preterm babies. J Pediatr. 1982;100: 614-619
    • (1982) J Pediatr , vol.100 , pp. 614-619
    • Harpin, V.A.1    Rutter, N.2
  • 4
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: Genetic analysis
    • Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073-1080
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1    Rommens, J.M.2    Buchanan, J.A.3
  • 5
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations
    • The Cystic Fibrosis Genetic Analysis Consortium. Population variation of common cystic fibrosis mutations. Hum Mut. 1994;4:167-177
    • (1994) Hum Mut , vol.4 , pp. 167-177
  • 6
    • 0026749739 scopus 로고
    • A cost analysis of blood-spot screening newborns for cystic fibrosis
    • Dauphinais RM. A cost analysis of blood-spot screening newborns for cystic fibrosis. J Clin Immunoassay. 1992;15:121-125
    • (1992) J Clin Immunoassay , vol.15 , pp. 121-125
    • Dauphinais, R.M.1
  • 7
    • 0027526217 scopus 로고
    • Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs
    • Richards B, Skoletsky J, Shuber AP, et al. Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs. Hum Mol Genet. 1993;2:159-163
    • (1993) Hum Mol Genet , vol.2 , pp. 159-163
    • Richards, B.1    Skoletsky, J.2    Shuber, A.P.3
  • 8
    • 0026764808 scopus 로고
    • Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene
    • Ferrie RM, Schwarz MJ, Robertson NH, et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet. 1992;51:251-262
    • (1992) Am J Hum Genet , vol.51 , pp. 251-262
    • Ferrie, R.M.1    Schwarz, M.J.2    Robertson, N.H.3
  • 9
    • 0028086056 scopus 로고
    • A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations
    • Highsmith WE, Burch LH, Zhou Z, et al. 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
    • (1994) N Engl J Med , vol.331 , pp. 974-980
    • Highsmith, W.E.1    Burch, L.H.2    Zhou, Z.3
  • 11
    • 0029025333 scopus 로고
    • Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens
    • Chillon M, Casals T, Mercier B, et al. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N Engl J Med. 1995;332:1475-1480
    • (1995) N Engl J Med , vol.332 , pp. 1475-1480
    • Chillon, M.1    Casals, T.2    Mercier, B.3
  • 13
    • 0018889258 scopus 로고
    • Incidence of meconium abnormalities in newborn infants with cystic fibrosis
    • Rosenstein BJ, Langbaum. TS. Incidence of meconium abnormalities in newborn infants with cystic fibrosis. Am J Dis Child. 1980;134:72-73
    • (1980) Am J Dis Child , vol.134 , pp. 72-73
    • Rosenstein, B.J.1    Langbaum, T.S.2
  • 14
    • 2642662727 scopus 로고
    • Meconium
    • Lloyd-Still JD, ed. Boston, MA: Wright
    • Lloyd-Still JD. Meconium. In: Lloyd-Still JD, ed. Cystic Fibrosis. Boston, MA: Wright; 1983:153-163
    • (1983) Cystic Fibrosis , pp. 153-163
    • Lloyd-Still, J.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.