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Volumn 44, Issue 6, 1998, Pages 1346-1348

Clinical evaluation of the CF(12)m cystic fibrosis DNA diagnostic kit

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0031747469     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/44.6.1346     Document Type: Article
Times cited : (6)

References (14)
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    • Riordan, J.R.1    Rommens, J.M.2    Kerem, B.3    Alon, N.4    Rozmahel, R.5    Grzelczak, Z.6
  • 4
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    • Population variation of common cystic fibrosis mutations
    • Kazazian HH. Population variation of common cystic fibrosis mutations. Hum Mutat 1994;4:167-77.
    • (1994) Hum Mutat , vol.4 , pp. 167-177
    • Kazazian, H.H.1
  • 5
    • 0031985207 scopus 로고    scopus 로고
    • Identification of 3 novel mutations in the CFTR gene, R117P, ΔD192 and 3121+1G→A in four French patients
    • Feldmann D, Sardet A, Cougoureux E, Fontaine JL, Tournier G, Aymard P. Identification of 3 novel mutations in the CFTR gene, R117P, ΔD192 and 3121+1G→A in four French patients. Hum Mutat 1998 (Suppl 1):S78-80.
    • (1998) Hum Mutat , Issue.1 SUPPL.
    • Feldmann, D.1    Sardet, A.2    Cougoureux, E.3    Fontaine, J.L.4    Tournier, G.5    Aymard, P.6
  • 6
    • 85046500756 scopus 로고    scopus 로고
    • The development and validation of a screening test for 12 common mutations of the cystic fibrosis CFTR gene
    • in press
    • Robertson NH, Weston SL, Kelly SJ, Duxbury NJ, Pearce SR, Elsmore P, et al. The development and validation of a screening test for 12 common mutations of the cystic fibrosis CFTR gene. Eur Respir J (in press).
    • Eur Respir J
    • Robertson, N.H.1    Weston, S.L.2    Kelly, S.J.3    Duxbury, N.J.4    Pearce, S.R.5    Elsmore, P.6
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    • A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations
    • Costes B, Fanen P, Goossens M, Ghanem N. A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations. Hum Mutat 1993;2:185-91.
    • (1993) Hum Mutat , vol.2 , pp. 185-191
    • Costes, B.1    Fanen, P.2    Goossens, M.3    Ghanem, N.4
  • 8
    • 0030061664 scopus 로고    scopus 로고
    • Simple, rapid nonradioactive method to detect major cystic fibrosis mutations in Ashkenazi Jews
    • Avidor B, Zakut H, Kerem B. Simple, rapid nonradioactive method to detect major cystic fibrosis mutations in Ashkenazi Jews. Clin Chem 1996;42: 103-5.
    • (1996) Clin Chem , vol.42 , pp. 103-105
    • Avidor, B.1    Zakut, H.2    Kerem, B.3
  • 9
    • 0028209965 scopus 로고
    • Mass screening for cystic fibrosis heterozygotes: Two assays systems compared
    • Gilfillan A, Axton R, Brock DJH. Mass screening for cystic fibrosis heterozygotes: two assays systems compared. Clin Chem 1994;40:197-9.
    • (1994) Clin Chem , vol.40 , pp. 197-199
    • Gilfillan, A.1    Axton, R.2    Brock, D.J.H.3
  • 10
    • 0028980615 scopus 로고
    • Simultaneous detection of ΔF508, G542X, NI303K, G55ID and 1717-IG→a cystic fibrosis alleles by a multiplex DNA enzyme immunoassay
    • Sanguiolo F, Maceratesi P, Mesoraca A, Botta A, Cavicchini A, Novelli G, Dallapiccola B. Simultaneous detection of ΔF508, G542X, NI303K, G55ID and 1717-IG→A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay. Int J Clin Lab Res 1995;25:142-5.
    • (1995) Int J Clin Lab Res , vol.25 , pp. 142-145
    • Sanguiolo, F.1    Maceratesi, P.2    Mesoraca, A.3    Botta, A.4    Cavicchini, A.5    Novelli, G.6    Dallapiccola, B.7
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  • 14
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    • Iovanna, J.L.1    Ferec, C.2    Sarles, J.3    Dagorn, J.C.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.