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Volumn 351, Issue 9100, 1998, Pages 383-384

Connexin 26 gene mutation and autosomal recessive deafness

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

EID: 0032492187     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(05)78347-1     Document Type: Note
Times cited : (15)

References (13)
  • 1
    • 0006095017 scopus 로고
    • Practical observations on aural surgery and the nature and diagnosis of diseases of the ear
    • WR Wilde Practical observations on aural surgery and the nature and diagnosis of diseases of the ear 1853 Churchill London
    • (1853)
    • Wilde, WR1
  • 2
    • 0031046284 scopus 로고    scopus 로고
    • A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
    • S Abdelkak V Kalatzis R Heilig A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family Nat Genet 15 1997 157 164
    • (1997) Nat Genet , vol.15 , pp. 157-164
    • Abdelkak, S1    Kalatzis, V2    Heilig, R3
  • 3
    • 0031054075 scopus 로고    scopus 로고
    • A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
    • N Neyroud F Tesson I Denjoy A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome Nat Genet 15 1997 186 189
    • (1997) Nat Genet , vol.15 , pp. 186-189
    • Neyroud, N1    Tesson, F2    Denjoy, I3
  • 4
    • 9844261701 scopus 로고    scopus 로고
    • IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome
    • J Tyson L Tranebjaerg S Bellman IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome Hum Mol Genet 6 1997 2179 2185
    • (1997) Hum Mol Genet , vol.6 , pp. 2179-2185
    • Tyson, J1    Tranebjaerg, L2    Bellman, S3
  • 5
    • 16944366606 scopus 로고    scopus 로고
    • Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
    • LA Everett B Glaser JC Beck Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) Nat Genet 17 1997 411 422
    • (1997) Nat Genet , vol.17 , pp. 411-422
    • Everett, LA1    Glaser, B2    Beck, JC3
  • 6
    • 0031007349 scopus 로고    scopus 로고
    • Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
    • DP Kelsell J Dunlop HP Stevens Connexin 26 mutations in hereditary non-syndromic sensorineural deafness Nature 387 1997 80 83
    • (1997) Nature , vol.387 , pp. 80-83
    • Kelsell, DP1    Dunlop, J2    Stevens, HP3
  • 8
    • 0030960855 scopus 로고    scopus 로고
    • Mutations in the myosin VIIA gene cause non-syndromic deafness
    • X-Z Liu J Walsh P Mburu Mutations in the myosin VIIA gene cause non-syndromic deafness Nat Genet 16 1997 188 190
    • (1997) Nat Genet , vol.16 , pp. 188-190
    • Liu, X-Z1    Walsh, J2    Mburu, P3
  • 9
    • 0030951102 scopus 로고    scopus 로고
    • The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome and allelic defects of the myosin VIIA gene
    • D Weil P Kussel S Blanchard The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome and allelic defects of the myosin VIIA gene Nat Genet 16 1997 191 193
    • (1997) Nat Genet , vol.16 , pp. 191-193
    • Weil, D1    Kussel, P2    Blanchard, S3
  • 10
    • 0031278277 scopus 로고    scopus 로고
    • Autosomal dominant nonsyndromic deafness caused by a mutation in the myosin VIIA gene
    • X-Z Liu J Walsh Y Tamagawa Autosomal dominant nonsyndromic deafness caused by a mutation in the myosin VIIA gene Nat Genet 17 1997 268 269
    • (1997) Nat Genet , vol.17 , pp. 268-269
    • Liu, X-Z1    Walsh, J2    Tamagawa, Y3
  • 11
    • 9844245885 scopus 로고    scopus 로고
    • Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • L Zelante P Gasparini X Estivill Connexin 26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans Hum Mol Genet 6 1997 1605 1609
    • (1997) Hum Mol Genet , vol.6 , pp. 1605-1609
    • Zelante, L1    Gasparini, P2    Estivill, X3
  • 12
    • 0030696315 scopus 로고    scopus 로고
    • Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations
    • MM Carrasquillo J Zlotogora S Barges A Chakravarti Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations Hum Mol Genet 6 1997 2163 2172
    • (1997) Hum Mol Genet , vol.6 , pp. 2163-2172
    • Carrasquillo, MM1    Zlotogora, J2    Barges, S3    Chakravarti, A4
  • 13
    • 9844252338 scopus 로고    scopus 로고
    • Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
    • F Denoyelle D Weil MA Maw Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene Hum Mol Genet 6 1997 2173 2177
    • (1997) Hum Mol Genet , vol.6 , pp. 2173-2177
    • Denoyelle, F1    Weil, D2    Maw, MA3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.