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Volumn 87, Issue 42, 2007, Pages 2977-2981

Prevalence of GJB2 mutations in Uigur and Han ethnic populations with deafness in Xinjiang region of China

Author keywords

Deafness; GJB2 gene; Han nationality; Mutation; Xinjiang

Indexed keywords

GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN BETA 2; UNCLASSIFIED DRUG;

EID: 38749125476     PISSN: 03762491     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (16)
  • 1
    • 38749150764 scopus 로고    scopus 로고
    • Chinese source.
    • Chinese source.
  • 2
    • 0032877067 scopus 로고    scopus 로고
    • Congenital non-syndromal sensorineural hearing impairment due to connexin-26 gene mutations-molecular and audiological findings
    • Mueller R, Nehammer A, Middleton A, et al. Congenital non-syndromal sensorineural hearing impairment due to connexin-26 gene mutations-molecular and audiological findings. Int J Ped Otorhinolaryngol, 1999, 50:3-13.
    • (1999) Int J Ped Otorhinolaryngol , vol.50 , pp. 3-13
    • Mueller, R.1    Nehammer, A.2    Middleton, A.3
  • 3
    • 0035375301 scopus 로고    scopus 로고
    • Mutations in the connexin 26/ GJB2 gene are the most common event in nonsyndromic hearing loss among the German population
    • Gabriel H, Kupsch P, Sudendey J, et al. Mutations in the connexin 26/ GJB2 gene are the most common event in nonsyndromic hearing loss among the German population. Hum Mutat, 2001, 17:521-522.
    • (2001) Hum Mutat , vol.17 , pp. 521-522
    • Gabriel, H.1    Kupsch, P.2    Sudendey, J.3
  • 4
    • 0037009264 scopus 로고    scopus 로고
    • Prevalence of GJB2 mutations in prelingual deafness in the Greek population
    • Pampanos A, Economides J, Iliadou V, et al. Prevalence of GJB2 mutations in prelingual deafness in the Greek population. Int J Ped Otolaryngol, 2002, 65:101-108.
    • (2002) Int J Ped Otolaryngol , vol.65 , pp. 101-108
    • Pampanos, A.1    Economides, J.2    Iliadou, V.3
  • 5
    • 0033577528 scopus 로고    scopus 로고
    • Clinical features of the prevalent form of childhood deafness, DFNB1, due to aconnexin 26 gene detect: Implications for genetic counselling
    • Denoyelle F, Marlin S, Weil D, et al. Clinical features of the prevalent form of childhood deafness, DFNB1, due to aconnexin 26 gene detect: Implications for genetic counselling. Lancet, 1999, 353:1298-1301.
    • (1999) Lancet , vol.353 , pp. 1298-1301
    • Denoyelle, F.1    Marlin, S.2    Weil, D.3
  • 6
    • 27744466817 scopus 로고    scopus 로고
    • Autosomal recessive and sporadic deafness in Morocco: High frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant
    • Gazzaz B, Weil D, Rais L, et al. Autosomal recessive and sporadic deafness in Morocco: High frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant. Hearing Res, 2005, 210:80-84.
    • (2005) Hearing Res , vol.210 , pp. 80-84
    • Gazzaz, B.1    Weil, D.2    Rais, L.3
  • 7
    • 1442329625 scopus 로고    scopus 로고
    • Low frequency of deafness associated GJB2 variants in Kenya and Sudan and novel GJB2 variants
    • Gasmelseed N, Schmidt M, Magzoub M, et al. Low frequency of deafness associated GJB2 variants in Kenya and Sudan and novel GJB2 variants. Hum Mutat, 2004, 23:206-207.
    • (2004) Hum Mutat , vol.23 , pp. 206-207
    • Gasmelseed, N.1    Schmidt, M.2    Magzoub, M.3
  • 8
    • 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
  • 9
    • 0033812813 scopus 로고    scopus 로고
    • Connexin26 mutations associated with nonsyndromic hearing loss
    • Park H, Hahn S, Chun Y, et al. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope, 2000, 110: 1535-1538.
    • (2000) Laryngoscope , vol.110 , pp. 1535-1538
    • Park, H.1    Hahn, S.2    Chun, Y.3
  • 10
    • 0036654536 scopus 로고    scopus 로고
    • GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review
    • Kenneson A, Van Naarden Braun K, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review. Genet Med, 2002, 4:258-274.
    • (2002) Genet Med , vol.4 , pp. 258-274
    • Kenneson, A.1    Van Naarden Braun, K.2    Boyle, C.3
  • 11
    • 0036947286 scopus 로고    scopus 로고
    • connexin 26 gene (GJB2): Prevalence of mutations in the Chinese population
    • Liu X, Ke X, Qi Y, et al. connexin 26 gene (GJB2): prevalence of mutations in the Chinese population. J Hum Genet, 2002, 47:688-690.
    • (2002) J Hum Genet , vol.47 , pp. 688-690
    • Liu, X.1    Ke, X.2    Qi, Y.3
  • 12
    • 12144287717 scopus 로고    scopus 로고
    • A genotype-phenotype correlation for GJB2 (connexin 26) deafness
    • Cryns K, Orzan E, Murgia A, et al. A genotype-phenotype correlation for GJB2 (connexin 26) deafness. J Med Genet, 2004, 41:147-154.
    • (2004) J Med Genet , vol.41 , pp. 147-154
    • Cryns, K.1    Orzan, E.2    Murgia, A.3
  • 13
    • 3643059295 scopus 로고    scopus 로고
    • Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness
    • Morell R, Kim H, Hood L, et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med, 1998, 339:1500-1505.
    • (1998) N Engl J Med , vol.339 , pp. 1500-1505
    • Morell, R.1    Kim, H.2    Hood, L.3
  • 14
    • 0038270170 scopus 로고    scopus 로고
    • Connexin 26 35delG does not represent a mutational hotspot
    • Rothrock C, Murgia A, Sartorato E, 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.1    Murgia, A.2    Sartorato, E.3
  • 15
    • 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
  • 16
    • 38749109404 scopus 로고    scopus 로고
    • Chinese source.
    • Chinese source.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.