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Volumn 3, Issue 1, 2000, Pages 9-12

A polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) test to detect the common mutation (35delG) in the connexin-26 gene

Author keywords

35delG mutation; Connexin 26 gene; PCR RFLP

Indexed keywords


EID: 30744453062     PISSN: 2075051X     EISSN: 20750528     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (12)
  • 1
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    • Genetic epidemiology of hearing impairment
    • Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991, 630, 16-31.
    • (1991) Ann N Y Acad Sci , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 3
    • 17544402026 scopus 로고    scopus 로고
    • High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB235delG
    • Gasparini P, Rabionet R, Barbujani G, Melchionda S, Petersen M, Brondum-Nielsen K et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB235delG. Eur J Hum Genet 2000 8, 19-23.
    • (2000) Eur J Hum Genet , vol.8 , pp. 19-23
    • Gasparini, P.1    Rabionet, R.2    Barbujani, G.3    Melchionda, S.4    Petersen, M.5    Brondum-Nielsen, K.6
  • 6
    • 0033056952 scopus 로고    scopus 로고
    • Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 gene (GJB2)
    • Rabionet R Estivill X. Allele specific oligonucleotide analysis of the common deafness mutation 35delG in the connexin 26 gene (GJB2). J Med Genet 1999, 36, 260-1.
    • (1999) J Med Genet , vol.36 , pp. 260-261
    • Rabionet, R.1    Estivill, X.2
  • 7
    • 0034116117 scopus 로고    scopus 로고
    • A simple PCR test to detect the common 35delG mutation in the connexin 26 gene
    • Wilcox SA, Osborn AH, Dahl HH. A simple PCR test to detect the common 35delG mutation in the connexin 26 gene. Mol Diagn 2000 5, 75-78.
    • (2000) Mol Diagn , vol.5 , pp. 75-78
    • Wilcox, S.A.1    Osborn, A.H.2    Dahl, H.H.3
  • 8
    • 0033575109 scopus 로고    scopus 로고
    • Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness
    • Green GE, Scott DA, McDonald JM, Woodworth GG, Sheffield VC, Smith RJ. Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA 1999, 281, 2211-6.
    • (1999) JAMA , vol.281 , pp. 2211-2216
    • Green, G.E.1    Scott, D.A.2    McDonald, J.M.3    Woodworth, G.G.4    Sheffield, V.C.5    Smith, R.J.6
  • 9
    • 0033037643 scopus 로고    scopus 로고
    • Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
    • Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ et al. Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1). Pediatrics 1999, 103, 546-50.
    • (1999) Pediatrics , vol.103 , pp. 546-550
    • Cohn, E.S.1    Kelley, P.M.2    Fowler, T.W.3    Gorga, M.P.4    Lefkowitz, D.M.5    Kuehn, H.J.6
  • 10
    • 0032840844 scopus 로고    scopus 로고
    • Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method
    • Storm K, Willocx S, Flothmann K, van Camp G. Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method. Hum Mutat 1999, 14, 263-6.
    • (1999) Hum Mutat , vol.14 , pp. 263-266
    • Storm, K.1    Willocx, S.2    Flothmann, K.3    van Camp, G.4
  • 11
    • 3643059295 scopus 로고    scopus 로고
    • Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
    • Morell RJ, Kim HJ, Hood LJ, Goforth L, Friderici K, Fisher R et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998 339, 1500-5.
    • (1998) N Engl J Med , vol.339 , pp. 1500-1505
    • Morell, R.J.1    Kim, H.J.2    Hood, L.J.3    Goforth, L.4    Friderici, K.5    Fisher, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.