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Volumn 68, Issue 2, 2005, Pages 188-189

Analysis of GJB2 mutation: Evidence for a Mediterranean ancestor for the 35delG mutation [4]

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

EID: 22244457367     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00474.x     Document Type: Letter
Times cited : (22)

References (13)
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    • Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
    • Denoyelle F, Weil D, Maw MA et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet 1997: 6: 2173-2177.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2173-2177
    • Denoyelle, F.1    Weil, D.2    Maw, M.A.3
  • 2
    • 0034324676 scopus 로고    scopus 로고
    • Determination of the frequency of connexin 26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE
    • Masmoudi S, Elgaied-Boulila A, Kassab I et al. Determination of the frequency of connexin 26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE. J Med Genet 2000: 37: E39.
    • (2000) J. Med. Genet. , vol.37
    • Masmoudi, S.1    Elgaied-Boulila, A.2    Kassab, I.3
  • 3
    • 0035489776 scopus 로고    scopus 로고
    • Autosomal recessive non-syndromic hearing loss in the Lebanese population: Prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene
    • Mustapha M, Salem N, Delague V et al. Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene. J Med Genet 2001: 38: E36.
    • (2001) J. Med. Genet. , vol.38
    • Mustapha, M.1    Salem, N.2    Delague, V.3
  • 4
    • 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: 263-266.
    • (1999) Hum. Mutat. , vol.14 , pp. 263-266
    • Storm, K.1    Willocx, S.2    Flothmann, K.3    Van Camp, G.4
  • 5
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    • Kelsell DP, Dunlop J, Stevens HP et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997: 387: 80-83.
    • (1997) Nature , vol.387 , pp. 80-83
    • Kelsell, D.P.1    Dunlop, J.2    Stevens, H.P.3
  • 7
    • 0033812813 scopus 로고    scopus 로고
    • Connexin26 mutations associated with nonsyndromic hearing loss
    • Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000: 110: 1535-1538.
    • (2000) Laryngoscope , vol.110 , pp. 1535-1538
    • Park, H.J.1    Hahn, S.H.2    Chun, Y.M.3    Park, K.4    Kim, H.N.5
  • 8
    • 17544402026 scopus 로고    scopus 로고
    • High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG
    • Gasparini P, Rabionet R, Barbujani G et al. High carrier frequency of the 35delG deafness mutation in European populations. Genetic analysis consortium of GJB2 35delG. 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
  • 9
    • 0034881345 scopus 로고    scopus 로고
    • A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment
    • Van Laer L, Coucke P, Mueller RF et al. A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet 2001: 38: 515-518.
    • (2001) J. Med. Genet. , vol.38 , pp. 515-518
    • Van Laer, L.1    Coucke, P.2    Mueller, R.F.3
  • 10
    • 0038270170 scopus 로고    scopus 로고
    • Connexin 26 35delG does not represent a mutational hotspot
    • Rothrock CR, Murgia A, Sartorato EL et al. Connexin 26 35delG does not represent a mutational hotspot. Hum Genet 2003: 113: 18-23.
    • (2003) Hum. Genet. , vol.113 , pp. 18-23
    • Rothrock, C.R.1    Murgia, A.2    Sartorato, E.L.3
  • 12
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    • Gaucher disease: The N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago
    • Diaz A, Montfort M, Cormand B et al. Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago. Am J Hum Genet 1999: 64: 1233-1238.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1233-1238
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  • 13
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    • Mutations of bacteria from virus sensitivity to virus resistance
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    • (1943) Genetics , vol.28 , pp. 491-511
    • Luria, S.E.1    Delbruck, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.