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Volumn 57, Issue 6, 2011, Pages 799-801

Mutation distribution in expanded screening for cystic fibrosis: Making up the balance in a context of ethnic diversity

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 79957722641     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2011.164673     Document Type: Editorial
Times cited : (11)

References (16)
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    • Patient Registry Report
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  • 3
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    • Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population
    • Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 1992;51:951-6.
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  • 4
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    • Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
    • Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG
    • Grody WW, Cutting GR, Klinger KW, Richards CS, Watson MS, Desnick RJ (Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG). Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 2001;3:149-54.
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  • 5
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    • Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population
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  • 8
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    • Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients
    • erratum 2005;25:223
    • Alper OM, Wong LJ, Young S, Pearl M, Graham S, Sherwin J, et al. Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. Hum Mutat 2004;24:353; erratum 2005;25:223.
    • (2004) Hum Mutat , vol.24 , pp. 353
    • Alper, O.M.1    Wong, L.J.2    Young, S.3    Pearl, M.4    Graham, S.5    Sherwin, J.6
  • 9
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    • CFTR mutation distribution among U.S. Hispanics and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations
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    • Sugarman, E.A.1    Rohlfs, E.M.2    Silverman, L.M.3    Allitto, B.A.4
  • 10
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    • Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of hispanic individuals with cystic fibrosis
    • DOI 10.2353/jmoldx.2008.080004
    • Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong L-J. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn 2008;10:368-75. (Pubitemid 352019124)
    • (2008) Journal of Molecular Diagnostics , vol.10 , Issue.4 , pp. 368-375
    • Schrijver, I.1    Rappahahn, K.2    Pique, L.3    Kharrazi, M.4    Wong, L.-J.5
  • 13
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    • Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
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    • Watson, M.1    Cutting, G.R.2    Desnick, R.J.3    Driscoll, D.A.4    Klinger, K.5    Mennuti, M.6
  • 14
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  • 16
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    • Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.