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Volumn 11, Issue 3, 2009, Pages 173-175

Cystic fibrosis testing comes of age

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 67149096688     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2009.090024     Document Type: Note
Times cited : (3)

References (18)
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    • Baltimore
    • Witt D, Wold C, Goonewardena P, Louie E, Rosenfeld S: Cystic fibrosis screening of 103,600 individuals in an HMO: Molecular/clinical outcomes and a dramatic reduction in CF incidence. (Abstract) Annual Meeting, American Society of Human Genetics, Baltimore, 2008, 160
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    • Hale, J.E.1    Parad, R.B.2    Comeau, A.M.3
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    • The cystic fibrosis mutation "arms race": When less is more
    • Grody WW, Cutting G. and Watson MS: The cystic fibrosis mutation "arms race": when less is more. Genet Med 2007, 9:739-744
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  • 7
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    • Lebo RV, Bixler M, Galehouse D: One multiplex control for 29 cystic fibrosis mutations. Genet Test 2007, 11:256-268
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    • 9144253118 scopus 로고    scopus 로고
    • Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays
    • Sebastian S, Spitzer SG, Grosso LE, Amos J, Schaefer FV, Lyon E, Wolff DJ, Hajianpour A, Taylor AK, Millson A, Stenzel TT: Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays. Clin Chem 2004, 50:251-254
    • (2004) Clin Chem , vol.50 , pp. 251-254
    • Sebastian, S.1    Spitzer, S.G.2    Grosso, L.E.3    Amos, J.4    Schaefer, F.V.5    Lyon, E.6    Wolff, D.J.7    Hajianpour, A.8    Taylor, A.K.9    Millson, A.10    Stenzel, T.T.11
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    • Quest for controls in molecular genetics
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    • Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis
    • Berwouts S, Gordon JT, Rundell CA, Barton DE, Dequeker E: Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis. Hum Mutat 2008, 29:1063-1070
    • (2008) Hum Mutat , vol.29 , pp. 1063-1070
    • Berwouts, S.1    Gordon, J.T.2    Rundell, C.A.3    Barton, D.E.4    Dequeker, E.5
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    • Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel
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    • Apparent homozygosity of a novel frame shift mutation in the CFTRA gene because of a large deletion
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    • 40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene
    • Chevalier-Porst F, Bonardot AM, Chazalette JP, Mathieu M, Bozon D: 40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mutat 1998, Suppl 1:S291-S294
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.