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Volumn 17, Issue 4, 2009, Pages 537-540

Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; CYSTIC FIBROSIS; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; LABORATORY DIAGNOSIS; PILOT STUDY; PRIORITY JOURNAL; QUALITATIVE DIAGNOSIS; QUALITY CONTROL;

EID: 62849090255     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.209     Document Type: Article
Times cited : (14)

References (9)
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    • Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis
    • Dequeker E, Cuppens H, Dodge H et al: Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis. Eur J Hum Genet 2000; (Suppl 2): S2-S24.
    • (2000) Eur J Hum Genet , Issue.SUPPL. 2
    • Dequeker, E.1    Cuppens, H.2    Dodge, H.3
  • 2
    • 0033932714 scopus 로고    scopus 로고
    • Genetic testing and quality control in diagnostic laboratories
    • Dequeker E, Cassiman JJ: Genetic testing and quality control in diagnostic laboratories. Nat Genet 2000; 25: 259-260.
    • (2000) Nat Genet , vol.25 , pp. 259-260
    • Dequeker, E.1    Cassiman, J.J.2
  • 3
    • 0033960887 scopus 로고    scopus 로고
    • Screening Practices for Mutations in the CFTR Gene ABCC7
    • Girodon-Boulandet E, Cazeneuve C, Goossens M: Screening Practices for Mutations in the CFTR Gene ABCC7. Hum Mutat 2000; 15: 135-149.
    • (2000) Hum Mutat , vol.15 , pp. 135-149
    • Girodon-Boulandet, E.1    Cazeneuve, C.2    Goossens, M.3
  • 4
    • 27144442381 scopus 로고    scopus 로고
    • Research network: EuroGentest - a European Network of Excellence aimed at harmonizing genetic testing services
    • Cassiman JJ: Research network: EuroGentest - a European Network of Excellence aimed at harmonizing genetic testing services. Eur J Hum Genet 2005; 13: 1103-1105.
    • (2005) Eur J Hum Genet , vol.13 , pp. 1103-1105
    • Cassiman, J.J.1
  • 5
    • 0742282177 scopus 로고    scopus 로고
    • Directive 98/79/EC of the European Parliament and of the Council, Accessed October 2007
    • Directive 98/79/EC of the European Parliament and of the Council. The European Parliament and the Council of the European Union 1998, http://www.ivd-ce.com/ivd.pdf (Accessed October 2007).
    • (1998) The European Parliament and the Council of the European Union
  • 7
    • 0032809486 scopus 로고    scopus 로고
    • A practical guide for the validation of genetic tests
    • Prence E: A practical guide for the validation of genetic tests. Genet Test 1999; 3: 201-205.
    • (1999) Genet Test , vol.3 , pp. 201-205
    • Prence, E.1
  • 8
    • 33845214742 scopus 로고    scopus 로고
    • Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland
    • Ramsden SC, Deans Z, Robinson DO et al: Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland. Genet Test 2006; 10: 147-156.
    • (2006) Genet Test , vol.10 , pp. 147-156
    • Ramsden, S.C.1    Deans, Z.2    Robinson, D.O.3
  • 9
    • 62849096652 scopus 로고    scopus 로고
    • OECD Guidelines for Quality Assurance in Molecular Genetic Testing, Accessed May 2007
    • OECD Guidelines for Quality Assurance in Molecular Genetic Testing, OECD 2007, http://www.cfnetwork.be/doc/QAGuidelineseng.pdf (Accessed May 2007).
    • , vol.OECD 2007


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.