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Volumn 7, Issue 3, 2005, Pages 375-387

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 23844437553     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1525-1578(10)60567-3     Document Type: Article
Times cited : (42)

References (21)
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    • (2000) Genet. Test , vol.4 , pp. 1-7
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    • Mutation detection by solid phase primer extension
    • Shumaker JM, Metspalu A, Caskey CT. Mutation detection by solid phase primer extension. Hum Mutat 1996, 7:346-345
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    • Shumaker, J.M.1    Metspalu, A.2    Caskey, C.T.3
  • 10
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    • A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family
    • Wong LJ, Wang J, Woo M, Hsu E, Bowman CM: A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family. Prenat Diagn 2000, 20:807-810
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  • 11
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    • A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients
    • Wang J, Bowman MC, Hsu E, Wertz K, Wong LJ: A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients. J Med Genet 2000, 37:215-218
    • (2000) J. Med. Genet. , vol.37 , pp. 215-218
    • Wang, J.1    Bowman, M.C.2    Hsu, E.3    Wertz, K.4    Wong, L.J.5
  • 12
    • 0033800152 scopus 로고    scopus 로고
    • A novel CFTR frame-shift mutation, 935delA, in two Hispanic cystic fibrosis patients
    • Wang J, Bowman CM, Wong LJ: A novel CFTR frame-shift mutation, 935delA, in two Hispanic cystic fibrosis patients. Mol Genet Metab 2000, 70:316-321
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  • 13
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    • Orozco L, Velazquez R, Zielenski J, Tsui LC, Chavez M, Lezana JL, Saldana Y, Hernandez E, Carnevale A: Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G→A). Hum Genet 2000, 106:360-365
    • (2000) Hum. Genet. , vol.106 , pp. 360-365
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    • Eaton, T.E.1    Weiner Miller, P.2    Garrett, J.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.