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Volumn 7, Issue 2, 2003, Pages 151-154

Connexin-30 deletion analysis in Connexin-26 heterozygotes

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

EID: 0038491488     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065703322146867     Document Type: Article
Times cited : (28)

References (17)
  • 2
    • 0030696315 scopus 로고    scopus 로고
    • Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: Implications for genetic studies in isolated populations
    • CARRASQUILLO, M.M., ZLOTOGORA, J., BARGES, S., and HACKRAVARTI, A. (1997). Two different connexin 26 mutations in an inbred kindred segregating nonsyndromic recessive deafness: implications for genetic studies in isolated populations. Hum. Mol. Genet. 6:2163-2172.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2163-2172
    • Carrasquillo, M.M.1    Zlotogora, J.2    Barges, S.3    Hackravarti, A.4
  • 4
    • 0033577528 scopus 로고    scopus 로고
    • Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin 26 gene defect: Implications for genetic counselling
    • DENOYELLE, F., MARLIN, S., WEIL, D., MOATTI, L., CHAUVIN, P., GARABEDIAN, E.N., and PETIT, C. (1999). Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin 26 gene defect: implications for genetic counselling. Lancet 353, 1298-1303.
    • (1999) Lancet , vol.353 , pp. 1298-1303
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3    Moatti, L.4    Chauvin, P.5    Garabedian, E.N.6    Petit, C.7
  • 6
  • 9
    • 0035513485 scopus 로고    scopus 로고
    • A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic deafness: A novel founder mutation in Ashkenazi Jews
    • LERER, I., SAGI, M., BEN-NERIAH, Z., WANG, T., LEVI, H., and ABELIOVICH, D. (2001). A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in nonsyndromic deafness: A novel founder mutation in Ashkenazi Jews. Hum. Mutat. 18, 460.
    • (2001) Hum. Mutat. , vol.18 , pp. 460
    • Lerer, I.1    Sagi, M.2    Ben-Neriah, Z.3    Wang, T.4    Levi, H.5    Abeliovich, D.6
  • 12
    • 0034510897 scopus 로고    scopus 로고
    • Connexin-26 gene analysis in hearing-impaired newborns
    • MILUNSKY, J.M., MAHER, T.A., YOSUNKAYA, E., and VOHR, B.R. (2000). Connexin-26 gene analysis in hearing-impaired newborns. Genet. Test. 4, 345-349.
    • (2000) Genet. Test. , vol.4 , pp. 345-349
    • Milunsky, J.M.1    Maher, T.A.2    Yosunkaya, E.3    Vohr, B.R.4
  • 13
    • 85047699401 scopus 로고    scopus 로고
    • A large deletion including most of GJB6 in recessive non syndromic deafness: A digenic effect?
    • PALLARES-RUIZ, N., BLANCHET, P., MONDAIN, M., CLAUSTRES, M., and ROUX, A. (2002). A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur. J. Hum. Genet. 10, 72-76.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 72-76
    • Pallares-Ruiz, N.1    Blanchet, P.2    Mondain, M.3    Claustres, M.4    Roux, A.5
  • 14
    • 0036247733 scopus 로고    scopus 로고
    • Connexin mutations in hearing loss, dematological and neurological disorders
    • RABIONET, R., LOPEZ-BIGAS, N., ARBONES, M.L., and ESTIVILL, X. (2002). Connexin mutations in hearing loss, dematological and neurological disorders. Trends Mol. Med. 8, 205-212.
    • (2002) Trends Mol. Med. , vol.8 , pp. 205-212
    • Rabionet, R.1    Lopez-Bigas, N.2    Arbones, M.L.3    Estivill, X.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.