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Volumn 108, Issue 4, 2001, Pages 290-298

Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): Major implications for genetic counselling

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0035020939     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100490     Document Type: Article
Times cited : (112)

References (44)
  • 13
    • 0031978371 scopus 로고    scopus 로고
    • Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: Report of a large European external quality assessment
    • (1998) Eur J Hum Genet , vol.6 , pp. 165-175
    • Dequeker, E.1    Cassiman, J.J.2
  • 15
    • 0342657015 scopus 로고    scopus 로고
    • Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europe
    • (2000) Hum Genet , vol.106 , pp. 259-268
    • Dörk, T.1    Macek, M.J.2    Mekus, F.3
  • 16
    • 0024988766 scopus 로고
    • Abnormal distribution of CF F508 allele in azoospermic men with congenital aplasia of the epididymis and vas deferens
    • (1990) Lancet , vol.336 , pp. 512
    • Dumur, V.1    Gervais, R.2    Rigot, J.M.3
  • 40
    • 0027034365 scopus 로고
    • Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: A report from the Cystic Fibrosis Genetic Analysis Consortium
    • (1992) Hum Mutat , vol.1 , pp. 197-203
    • Tsui, L.C.1
  • 42
    • 0028902516 scopus 로고
    • Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: Identification of three novel alleles
    • (1995) Hum Mutat , vol.5 , pp. 205-209
    • Verlingue, C.1    Kapranov, N.2    Mercier, M.3
  • 43
    • 0027162649 scopus 로고
    • Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis
    • (1993) Cell , vol.73 , pp. 1251-1254
    • Welsh, M.J.1    Smith, A.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.