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Volumn 63, Issue 6, 2003, Pages 541-542

Low prevalence of the deafness-associated 35delG mutation in the connexin-26 (GJB2) gene in a Sicilian population

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

EID: 0042632650     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2003.00071.x     Document Type: Letter
Times cited : (5)

References (10)
  • 1
    • 0026410464 scopus 로고
    • Genetic epidemiology of hearing impairment
    • Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991: 630: 16-31.
    • (1991) Ann. N. Y. Acad. Sci. , vol.630 , pp. 16-31
    • Morton, N.E.1
  • 2
    • 0034643491 scopus 로고    scopus 로고
    • Mechanisms of disease: Genetic causes of hearing loss
    • Willems PJ. Mechanisms of disease: genetic causes of hearing loss. N Engl J Med 2000: 342: 1101-1109.
    • (2000) N. Engl. J. Med. , vol.342 , pp. 1101-1109
    • Willems, P.J.1
  • 3
    • 9844245885 scopus 로고    scopus 로고
    • Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans
    • Zelante L, Gasparini P, Estivill X et al. Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans. Hum Mol Genet 1997: 6: 1605-1609.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 1605-1609
    • Zelante, L.1    Gasparini, P.2    Estivill, X.3
  • 5
    • 0035232752 scopus 로고    scopus 로고
    • Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing, impairment in Ghana
    • Hamelmann C, Amedofu GK, Albrecht K et al. Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing, impairment in Ghana. Hum Mutat 2001: 18: 84-85.
    • (2001) Hum. Mutat. , vol.18 , pp. 84-85
    • Hamelmann, C.1    Amedofu, G.K.2    Albrecht, K.3
  • 6
    • 0035650583 scopus 로고    scopus 로고
    • Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population
    • Simsek M, Al-Wardy N, Al-Khayat A et al. Absence of deafness-associated connexin-26 (GJB2) gene mutations in the Omani population. Hum Mutat 2001: 18: 545-546.
    • (2001) Hum. Mutat. , vol.18 , pp. 545-546
    • Simsek, M.1    Al-Wardy, N.2    Al-Khayat, A.3
  • 7
    • 0033812813 scopus 로고    scopus 로고
    • Connexin26 mutations associated with nonsyndromic hearing loss
    • Park HJ, Hahn SH, Chun YM, Park K, Kim HN. Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope 2000: 110: 1535-1538.
    • (2000) Laryngoscope , vol.110 , pp. 1535-1538
    • Park, H.J.1    Hahn, S.H.2    Chun, Y.M.3    Park, K.4    Kim, H.N.5
  • 8
    • 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
  • 9
    • 0034884213 scopus 로고    scopus 로고
    • Connexin 26 gene mutations in congenitally deaf children: Pitfalls for genetic counseling
    • Marlin S, Garabedian EN, Roger G et al. Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling. Arch Otolaryngol Head Neck Surg 2001: 127: 927-933.
    • (2001) Arch. Otolaryngol. Head Neck Surg. , vol.127 , pp. 927-933
    • Marlin, S.1    Garabedian, E.N.2    Roger, G.3
  • 10
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.