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Volumn 31, Issue 6, 2010, Pages 919-922

Prevalence of Connexin 26 (GJB2) and Pendred (SLC26A4) mutations in a population of adult cochlear implant candidates

Author keywords

Adult; Cochlear implant; Connexin 26; GJB2; GJB6; Pendred; SLC26A4

Indexed keywords

CARRIER PROTEIN; CONNEXIN 26; DNA; GAP JUNCTION PROTEIN; GJB6 PROTEIN, HUMAN; SLC26A4 PROTEIN, HUMAN;

EID: 77955229635     PISSN: 15317129     EISSN: 15374505     Source Type: Journal    
DOI: 10.1097/MAO.0b013e3181e3d324     Document Type: Article
Times cited : (16)

References (19)
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    • DOI 10.1038/ncb1205
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    • (2005) Nature Cell Biology , vol.7 , Issue.1 , pp. 63-69
    • Beltramello, M.1    Piazza, V.2    Bukauskas, F.F.3    Pozzan, T.4    Mammano, F.5
  • 13
    • 13444254030 scopus 로고    scopus 로고
    • SLC26A4/PDS genotypephenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): Evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities
    • Pryor SP, Madeo AC, Reynolds JC, et al. SLC26A4/PDS genotypephenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet 2006;42:159Y65.
    • (2006) J Med Genet , vol.42 , pp. 159-165
    • Pryor, S.P.1    Madeo, A.C.2    Reynolds, J.C.3
  • 14
    • 67849092454 scopus 로고    scopus 로고
    • SROOGLE: Webserver for integrative, user-friendly visualization of splicing signals
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    • (2009) Nucleic Acids Res , vol.37
    • Schwartz, S.1    Hall, E.2    Ast, G.3
  • 15
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    • Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073Y81.
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    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 17
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    • Audiological manifestations and features of connexin 26 deafness
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.