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Volumn 186, Issue 7, 2012, Pages 694-696

A young hispanic with c.1646G>A mutation exhibits severe cystic fibrosis lung disease: Is ivacaftor an option for therapy?

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR; VITAMIN;

EID: 84867134519     PISSN: 1073449X     EISSN: 15354970     Source Type: Journal    
DOI: 10.1164/ajrccm.186.7.694     Document Type: Letter
Times cited : (8)

References (12)
  • 1
    • 0025242929 scopus 로고
    • Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
    • Cheng SH, Gregory RJ, Marshall J, Paul S, Souza DW, White GA, O'Riordan CR, Smith AE. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis. Cell 1990;63:827-834. (Pubitemid 120035055)
    • (1990) Cell , vol.63 , Issue.4 , pp. 827-834
    • Cheng, S.H.1    Gregory, R.J.2    Marshall, J.3    Paul, S.4    Souza, D.W.5    White, G.A.6    O'Riordan, C.R.7    Smith, A.E.8
  • 2
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • DOI 10.1016/0092-8674(93)90353-R
    • Welsh MJ, Smith AE. Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis. Cell 1993;73:1251-1254. (Pubitemid 23201140)
    • (1993) Cell , vol.73 , Issue.7 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2
  • 5
    • 4644298390 scopus 로고    scopus 로고
    • CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations
    • DOI 10.1097/01.GIM.0000139503.22088.66
    • Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. CFTR mutation distribution among Hispanic US and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. Genet Med 2004;6:392-399. (Pubitemid 39304376)
    • (2004) Genetics in Medicine , vol.6 , Issue.5 , pp. 392-399
    • Sugarman, E.A.1    Rohlfs, E.M.2    Silverman, L.M.3    Allitto, B.A.4
  • 6
    • 0027411743 scopus 로고
    • Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family
    • Curtis A, Richardson RJ, Boohene J, Jackson A, Nelson R, Bhattacharya SS. Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family. J Med Genet 1993;30:164-166. (Pubitemid 23078398)
    • (1993) Journal of Medical Genetics , vol.30 , Issue.2 , pp. 164-166
    • Curtis, A.1    Richardson, R.J.2    Boohene, J.3    Jackson, A.4    Nelson, R.5    Bhattacharya, S.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.