메뉴 건너뛰기




Volumn 12, Issue 4, 2013, Pages 363-366

Phenotypic expression of the 3120+1G>A mutation in non-Caucasian children with cystic fibrosis in South Africa

Author keywords

Failure to thrive; Growth; Lung function; Meconium ileus; Pseudomonas aeruginosa

Indexed keywords

ADOLESCENT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; FEMALE; FOLLOW UP; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; MEDICAL RECORD REVIEW; MULTICENTER STUDY (TOPIC); PHENOTYPE; PSEUDOMONAS AERUGINOSA; RETROSPECTIVE STUDY; SOUTH AFRICA;

EID: 84878346760     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2012.11.003     Document Type: Article
Times cited : (9)

References (21)
  • 1
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: chromosome walking and jumping
    • Rommens J.M., Inannuzzzi M.C., Kerem B.S., Drumm M.L., Melmer G., Dean M., et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989, 245:1059-1065.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1    Inannuzzzi, M.C.2    Kerem, B.S.3    Drumm, M.L.4    Melmer, G.5    Dean, M.6
  • 2
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: cloning and characterization of the complimentary DNA
    • Riordan J.R., Rommens J.M., Kerem B.S., Alon N., Rozmahel R., Grzelczak Z., et al. Identification of the cystic fibrosis gene: cloning and characterization of the complimentary DNA. Science 1989, 245:1066-1073.
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.S.3    Alon, N.4    Rozmahel, R.5    Grzelczak, Z.6
  • 4
    • 79551596804 scopus 로고    scopus 로고
    • Therapeutics development for cystic fibrosis: successful model for a multisystem genetic disease
    • Ashlock M.A., Olson E.R. Therapeutics development for cystic fibrosis: successful model for a multisystem genetic disease. Annu Rev Med 2011, 62:107-125.
    • (2011) Annu Rev Med , vol.62 , pp. 107-125
    • Ashlock, M.A.1    Olson, E.R.2
  • 5
    • 0035169491 scopus 로고    scopus 로고
    • The molecular basis of cystic fibrosis in South Africa
    • Goldman A., Labrum R., Claustres M., et al. The molecular basis of cystic fibrosis in South Africa. Clin Genet 2001, 59:37-41.
    • (2001) Clin Genet , vol.59 , pp. 37-41
    • Goldman, A.1    Labrum, R.2    Claustres, M.3
  • 9
    • 0026069141 scopus 로고
    • Differences in expression of cystic fibrosis in blacks and whites
    • McColley S.A., Rosenstein B.J., Cutting G.R. Differences in expression of cystic fibrosis in blacks and whites. Am J Dis Child 1991, 145:94-97.
    • (1991) Am J Dis Child , vol.145 , pp. 94-97
    • McColley, S.A.1    Rosenstein, B.J.2    Cutting, G.R.3
  • 10
    • 73149086411 scopus 로고    scopus 로고
    • Diagnostic challenges of cystic fibrosis in patients of African origin
    • Mutesa L., Bours V. Diagnostic challenges of cystic fibrosis in patients of African origin. J Trop Pediatr 2009, 55:281-286.
    • (2009) J Trop Pediatr , vol.55 , pp. 281-286
    • Mutesa, L.1    Bours, V.2
  • 11
    • 0032929774 scopus 로고    scopus 로고
    • Cystic fibrosis carrier frequencies in populations of African origin
    • Padoa C., Goldman A., Jenkins T., Ramsay M. Cystic fibrosis carrier frequencies in populations of African origin. J Med Genet 1999, 36:41-44.
    • (1999) J Med Genet , vol.36 , pp. 41-44
    • Padoa, C.1    Goldman, A.2    Jenkins, T.3    Ramsay, M.4
  • 12
    • 33645976875 scopus 로고    scopus 로고
    • Diagnosing cystic fibrosis in South Africa
    • Westwood T., Henderson B., Ramsay M. Diagnosing cystic fibrosis in South Africa. S Afr Med J 2006, 94:304-306.
    • (2006) S Afr Med J , vol.94 , pp. 304-306
    • Westwood, T.1    Henderson, B.2    Ramsay, M.3
  • 13
    • 84878353181 scopus 로고    scopus 로고
    • [Accessed 10 June 2011]
    • [Accessed 10 June 2011]. http://http//:www.who.int/childgrowth/standards/en/.
  • 14
    • 0038102859 scopus 로고    scopus 로고
    • Evaluation of a new definition for chronic Pseudomonas aeruginosa infection in cystic fibrosis patients
    • Lee T.W.R., Brownlee K.G., Conway S.P., Denton M., Littlewood J.M. Evaluation of a new definition for chronic Pseudomonas aeruginosa infection in cystic fibrosis patients. J Cyst Fibros 2003, 2:29-34.
    • (2003) J Cyst Fibros , vol.2 , pp. 29-34
    • Lee, T.W.R.1    Brownlee, K.G.2    Conway, S.P.3    Denton, M.4    Littlewood, J.M.5
  • 17
    • 33645999677 scopus 로고    scopus 로고
    • Cystic fibrosis in black patients: Western Cape experiences
    • Westwood T., Brown R. Cystic fibrosis in black patients: Western Cape experiences. S Afr Med J 2006, 96:288-289.
    • (2006) S Afr Med J , vol.96 , pp. 288-289
    • Westwood, T.1    Brown, R.2
  • 18
    • 56049114619 scopus 로고    scopus 로고
    • The epidemiology of cystic fibrosis in the Western Cape Province
    • Westwood T. The epidemiology of cystic fibrosis in the Western Cape Province. S Afr J Child Health 2007, 1:78-81.
    • (2007) S Afr J Child Health , vol.1 , pp. 78-81
    • Westwood, T.1
  • 19
    • 0036311232 scopus 로고    scopus 로고
    • Relationship between nutritional status and lung function in cystic fibrosis: cross sectional and longitudinal analysis from the German CF Quality Assurance (CFQA) project
    • Steinkamp G., Wiedemann B. Relationship between nutritional status and lung function in cystic fibrosis: cross sectional and longitudinal analysis from the German CF Quality Assurance (CFQA) project. Thorax 2002, 57:596-601.
    • (2002) Thorax , vol.57 , pp. 596-601
    • Steinkamp, G.1    Wiedemann, B.2
  • 21
    • 56049104938 scopus 로고    scopus 로고
    • Improvements in lung function of a pediatric cystic fibrosis population in a developing country
    • Morrow B.M., Argent A.C., Zar H.J., Westwood A.T.R. Improvements in lung function of a pediatric cystic fibrosis population in a developing country. J Pediatr (Rio J) 2008, 84:403-409.
    • (2008) J Pediatr (Rio J) , vol.84 , pp. 403-409
    • Morrow, B.M.1    Argent, A.C.2    Zar, H.J.3    Westwood, A.T.R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.