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Volumn 87, Issue 40, 2007, Pages 2814-2819

Mutation of GJB2 gene in nonsyndromic hearing impairment patients: Analysis of 1190 cases

Author keywords

GJB2 gene; Mutation; Nonsyndromic hearing impairment

Indexed keywords

ADENOSINE; CONNEXIN 26; CYTOSINE; GENOMIC DNA; GUANINE; THYMINE;

EID: 38549164188     PISSN: 03762491     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (17)

References (18)
  • 1
    • 85120519391 scopus 로고    scopus 로고
    • Marazita ML, Ploughman L, Rawlings B, et al. Genetic epidemiological studies of early-onset deafness in the U. S. school-age population. Am J Med Genet, 1993, 46:486-491.
    • Marazita ML, Ploughman L, Rawlings B, et al. Genetic epidemiological studies of early-onset deafness in the U. S. school-age population. Am J Med Genet, 1993, 46:486-491.
  • 2
    • 0031683423 scopus 로고    scopus 로고
    • The fundamental and medical impacts of recent progress in research on hereditary hearing loss
    • Kalatzis V, Petit C. The fundamental and medical impacts of recent progress in research on hereditary hearing loss. Hum Mol Genet,1998, 7:1589-1597.
    • (1998) Hum Mol Genet , vol.7 , pp. 1589-1597
    • Kalatzis, V.1    Petit, C.2
  • 3
    • 0037092599 scopus 로고    scopus 로고
    • Genetics, genomics and gene discovery in the auditory system
    • Morton CC. Genetics, genomics and gene discovery in the auditory system. Hum Mol Genet,2002, 11:1229-1240.
    • (2002) Hum Mol Genet , vol.11 , pp. 1229-1240
    • Morton, C.C.1
  • 4
    • 38549120111 scopus 로고    scopus 로고
    • Chinese source.
    • Chinese source.
  • 5
    • 9844252338 scopus 로고    scopus 로고
    • 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
  • 6
    • 0032492217 scopus 로고    scopus 로고
    • Connexin-26 mutations in sporadic and inherited sensorineural deafness
    • Estivill X, Fortina P, Surrey S, et al. Connexin-26 mutations in sporadic and inherited sensorineural deafness. Lancet, 1998, 351:394-398.
    • (1998) Lancet , vol.351 , pp. 394-398
    • Estivill, X.1    Fortina, P.2    Surrey, S.3
  • 7
    • 0034536288 scopus 로고    scopus 로고
    • Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
    • Prasad S, Cucci RA, Green GE, et al. Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA). Hum Mutat, 2000, 16:502-508.
    • (2000) Hum Mutat , vol.16 , pp. 502-508
    • Prasad, S.1    Cucci, R.A.2    Green, G.E.3
  • 8
    • 0034677194 scopus 로고    scopus 로고
    • Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population
    • Kudo T, Ikeda K, Kure S, et al. Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population. Am J Med Genet, 2000, 90:141-145.
    • (2000) Am J Med Genet , vol.90 , pp. 141-145
    • Kudo, T.1    Ikeda, K.2    Kure, S.3
  • 9
    • 0033597554 scopus 로고    scopus 로고
    • Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness
    • Fuse Y, Doi K, Hasegawa T, et al. Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness. Neuroreport, 1999, 10:1853-1857.
    • (1999) Neuroreport , vol.10 , pp. 1853-1857
    • Fuse, Y.1    Doi, K.2    Hasegawa, T.3
  • 10
    • 0038237455 scopus 로고    scopus 로고
    • GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation
    • Ohtsuka A, Yuge I, Kimura S, et al. GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. Hum Genet,2003,112:329-333.
    • (2003) Hum Genet , vol.112 , pp. 329-333
    • Ohtsuka, A.1    Yuge, I.2    Kimura, S.3
  • 11
    • 0034013087 scopus 로고    scopus 로고
    • Prevalent connexin 26 gene (GJB2) mutations in Japanese
    • Abe S, Usami S, Shinkawa H, et al. Prevalent connexin 26 gene (GJB2) mutations in Japanese. J Med Genet, 2000, 37:41-43.
    • (2000) J Med Genet , vol.37 , pp. 41-43
    • Abe, S.1    Usami, S.2    Shinkawa, H.3
  • 12
    • 0032546033 scopus 로고    scopus 로고
    • Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa
    • Brobby GW, Muller-Myhsok B, Hortsmann RD. Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa. N Engl J Mad, 1998, 338:548-550.
    • (1998) N Engl J Mad , vol.338 , pp. 548-550
    • Brobby, G.W.1    Muller-Myhsok, B.2    Hortsmann, R.D.3
  • 13
    • 0036775627 scopus 로고    scopus 로고
    • Identification of 605ins46, a novel GJB2 mutation in a Japanese family
    • Yuge I, Ohtsuka A, Matsunaga T, et al. Identification of 605ins46, a novel GJB2 mutation in a Japanese family. Auris Nasus Larynx, 2002, 29:379-382.
    • (2002) Auris Nasus Larynx , vol.29 , pp. 379-382
    • Yuge, I.1    Ohtsuka, A.2    Matsunaga, T.3
  • 14
    • 0032604739 scopus 로고    scopus 로고
    • Gap junctions and connexin expression in the inner ear
    • Forge A, Becker D, Casalotti S, et al. Gap junctions and connexin expression in the inner ear. Novartis Found Symp,1999, 219:134-150.
    • (1999) Novartis Found Symp , vol.219 , pp. 134-150
    • Forge, A.1    Becker, D.2    Casalotti, S.3
  • 16
    • 0031796918 scopus 로고    scopus 로고
    • Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
    • Richard G, Smith LE, Bailey RA, et al. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet, 1998, 20:366-369.
    • (1998) Nat Genet , vol.20 , pp. 366-369
    • Richard, G.1    Smith, L.E.2    Bailey, R.A.3
  • 17
    • 17344363707 scopus 로고    scopus 로고
    • Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
    • Robertson N, Lu L, Heller S, et al. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet, 1998, 20:299-303.
    • (1998) Nat Genet , vol.20 , pp. 299-303
    • Robertson, N.1    Lu, L.2    Heller, S.3
  • 18
    • 38549110489 scopus 로고    scopus 로고
    • Chinese source.
    • Chinese source.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.