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Volumn 120 A, Issue 2, 2003, Pages 294-295

1154insTC is not a rare CFTR mutation [4]

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0042322854     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter
Times cited : (3)

References (10)
  • 1
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations
    • Cystic Fibrosis Genetic Analysis Consortium. 1994. Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177.
    • (1994) Hum Mutat , vol.4 , pp. 167-177
  • 2
    • 15844414679 scopus 로고    scopus 로고
    • Population specific screening by mutation analysis for diseases frequent in Ashkenazi Jews
    • DeMarchi JM, Caskey CT, Richards CS. 1996. Population specific screening by mutation analysis for diseases frequent in Ashkenazi Jews. Hum Mutat 8:116-125.
    • (1996) Hum Mutat , vol.8 , pp. 116-125
    • DeMarchi, J.M.1    Caskey, C.T.2    Richards, C.S.3
  • 3
    • 0029185421 scopus 로고
    • Relatively high prevalance of the CFTR mutations, G85E and 1154ins TC
    • Friedman KJ, Blalock ML, Heim RA, Silverman LM. 1995. Relatively high prevalance of the CFTR mutations, G85E and 1154ins TC. Hum Mutat 6:95-96.
    • (1995) Hum Mutat , vol.6 , pp. 95-96
    • Friedman, K.J.1    Blalock, M.L.2    Heim, R.A.3    Silverman, L.M.4
  • 5
    • 0035746484 scopus 로고    scopus 로고
    • Improved detection of cystic fibrosis mutations in the heterozygous US population using an expanded, pan-ethnic mutation panel
    • Heim RA, Sugarman EA, Allitto BA. 2001. Improved detection of cystic fibrosis mutations in the heterozygous US population using an expanded, pan-ethnic mutation panel. Genet Med 3:168-176.
    • (2001) Genet Med , vol.3 , pp. 168-176
    • Heim, R.A.1    Sugarman, E.A.2    Allitto, B.A.3
  • 7
    • 16944363988 scopus 로고    scopus 로고
    • Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene
    • Macek M, Mercier B, Mackova A, Miller PW, Hamosh A, Ferec C, Cutting GR. 1997. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutat 9:136-147.
    • (1997) Hum Mutat , vol.9 , pp. 136-147
    • Macek, M.1    Mercier, B.2    Mackova, A.3    Miller, P.W.4    Hamosh, A.5    Ferec, C.6    Cutting, G.R.7
  • 8
    • 0033744189 scopus 로고    scopus 로고
    • A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family
    • Wong LJC, Wang J, Woo M, Hsu E, Bowman CM. 2000. A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family. Prenat Diagn 20:807-810.
    • (2000) Prenat Diagn , vol.20 , pp. 807-810
    • Wong, L.J.C.1    Wang, J.2    Woo, M.3    Hsu, E.4    Bowman, C.M.5
  • 10
    • 0035451273 scopus 로고    scopus 로고
    • Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF
    • Wong LJC, Wang J, Bowman CM. 2001b. Two novel frame shift mutations of CFTR causing null alleles in a patient with a severe course of CF. Am J Med Genet 102:389-390.
    • (2001) Am J Med Genet , vol.102 , pp. 389-390
    • Wong, L.J.C.1    Wang, J.2    Bowman, C.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.