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Volumn 6, Issue 5, 2004, Pages 456-458

Cystic fibrosis mutation analysis: How many is enough? [2]

Author keywords

[No Author keywords available]

Indexed keywords

CAUCASIAN; CFTR GENE; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; ETHNIC DIFFERENCE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC IDENTIFICATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEALTH CARE COST; HEALTH CARE POLICY; HEALTH ECONOMICS; HUMAN; INCIDENCE; LETTER; MASS SCREENING; MUTATIONAL ANALYSIS; RACE DIFFERENCE; RARE DISEASE; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; UNITED STATES;

EID: 4644311396     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.GIM.0000139542.56994.67     Document Type: Letter
Times cited : (4)

References (15)
  • 7
    • 0033606777 scopus 로고    scopus 로고
    • NIH Consensus Conference on Genetic Testing for CF
    • NIH Consensus Conference on Genetic Testing for CF. Arch Int Med 1997;159:1529-1539.
    • (1997) Arch Int Med , vol.159 , pp. 1529-1539
  • 11
    • 0035693480 scopus 로고    scopus 로고
    • Cystic fibrosis carrier screening: Steps in the development of a mutation panel
    • Gilbert F. Cystic fibrosis carrier screening: steps in the development of a mutation panel. Genet Test 2001;5:223-227.
    • (2001) Genet Test , vol.5 , pp. 223-227
    • Gilbert, F.1
  • 12
    • 0035746484 scopus 로고    scopus 로고
    • Improved detection of cystic fibrosis mutations in the herterozygous U.S. population using an expanded, pan-thnic mutation panel
    • Heim RA, Sugarman EA, Allitto BA. Improved detection of cystic fibrosis mutations in the herterozygous U.S. population using an expanded, pan-thnic mutation panel. Genet Med 2001;3(3):168-176.
    • (2001) Genet Med , vol.3 , Issue.3 , pp. 168-176
    • Heim, R.A.1    Sugarman, E.A.2    Allitto, B.A.3
  • 15
    • 1942476884 scopus 로고    scopus 로고
    • Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T
    • Buller A, Olson S, Redman JB, Hantash F, Chen R, Strom CM. Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T. Genet Med 2004;6:108-109.
    • (2004) Genet Med , vol.6 , pp. 108-109
    • Buller, A.1    Olson, S.2    Redman, J.B.3    Hantash, F.4    Chen, R.5    Strom, C.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.