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Volumn 10, Issue 1, 2006, Pages 40-43

High incidence of deafness from three frequent connexin 26 mutations in an isolated community

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GENE PRODUCT;

EID: 33645366737     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.10.40     Document Type: Article
Times cited : (12)

References (13)
  • 3
    • 0033365398 scopus 로고    scopus 로고
    • Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites
    • Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A (1999) Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet 65:1785-1790.
    • (1999) Am J Hum Genet , vol.65 , pp. 1785-1790
    • Bolk, S.1    Puffenberger, E.G.2    Hudson, J.3    Morton, D.H.4    Chakravarti, A.5
  • 4
    • 0042632613 scopus 로고    scopus 로고
    • A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
    • Bonafe L, Giunta C, Gassner M, Steinmann B, Superti-Furga A (2003) A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. Clin Genet 64:28-35.
    • (2003) Clin Genet , vol.64 , pp. 28-35
    • Bonafe, L.1    Giunta, C.2    Gassner, M.3    Steinmann, B.4    Superti-Furga, A.5
  • 5
    • 0030696315 scopus 로고    scopus 로고
    • Two connexin 26 mutations in an inbred kindred segregating non-syndromic deafness
    • Carrasquillo MM, Zlotogora J, Barges S, Chakravarti A (1997) Two connexin 26 mutations in an inbred kindred segregating non-syndromic deafness. 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    Chakravarti, A.4
  • 8
    • 17844395222 scopus 로고    scopus 로고
    • The 35delG mutation in the connexin 26 Gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece
    • Lucotte G, Diterlen F (2005) The 35delG mutation in the connexin 26 Gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. Genet Testing 9:20-25.
    • (2005) Genet Testing , vol.9 , pp. 20-25
    • Lucotte, G.1    Diterlen, F.2
  • 10
    • 0036524027 scopus 로고    scopus 로고
    • Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East
    • Shahin H, Walsh T, Sobe T, Lynch E, King MC, Avraham KB, Kanaan M (2002) Genetics of congenital deafness in the Palestinian population: Multiple connexin 26 alleles with shared origins in the Middle East. Hum Genet 110:284-289.
    • (2002) Hum Genet , vol.110 , pp. 284-289
    • Shahin, H.1    Walsh, T.2    Sobe, T.3    Lynch, E.4    King, M.C.5    Avraham, K.B.6    Kanaan, M.7
  • 11
    • 0008823228 scopus 로고    scopus 로고
    • Multiple mutations in a small geographic area: A common phenomenon?
    • Zlotogora J, Gieselmann V, Bach G (1996) Multiple mutations in a small geographic area: a common phenomenon? Am J hum Genet 64:83-88.
    • (1996) Am J Hum Genet , vol.64 , pp. 83-88
    • Zlotogora, J.1    Gieselmann, V.2    Bach, G.3
  • 12
    • 0343183239 scopus 로고    scopus 로고
    • Genetic disorders among Palestinian Arabs 3: Autosomal recessive disorders in a single village
    • Zlotogora, Shalev S, Habiballah H, Barges S (2000) Genetic disorders among Palestinian Arabs 3: Autosomal recessive disorders in a single village. Am J Med Genet 92:243-345.
    • (2000) Am J Med Genet , vol.92 , pp. 243-345
    • Zlotogora1    Shalev, S.2    Habiballah, H.3    Barges, S.4
  • 13
    • 0037815352 scopus 로고    scopus 로고
    • High incidence of profound deafness in an isolated community
    • Zlotogora J, Barges S (2003) High incidence of profound deafness in an isolated community. Genet Testing 7:143-146.
    • (2003) Genet Testing , vol.7 , pp. 143-146
    • Zlotogora, J.1    Barges, S.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.