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Volumn 11, Issue 3, 2007, Pages 231-234

A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; GAP JUNCTION PROTEIN BETA 2; UNCLASSIFIED DRUG;

EID: 35348939111     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2006.0528     Document Type: Article
Times cited : (3)

References (12)
  • 1
    • 11444266011 scopus 로고    scopus 로고
    • A combined allele-specific PCR and RFLP assay to detect the 35delG mutation in the Connexin 26 gene
    • Baris I, Koksal V, Etlik O (2004) A combined allele-specific PCR and RFLP assay to detect the 35delG mutation in the Connexin 26 gene. Genet Test 8:384-386.
    • (2004) Genet Test , vol.8 , pp. 384-386
    • Baris, I.1    Koksal, V.2    Etlik, O.3
  • 3
    • 0034973378 scopus 로고    scopus 로고
    • Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews
    • Dong J, Katz DR, Eng CM, Kornreich R, Desnick RJ (2001) Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Mol Genet Metab 73:160-163.
    • (2001) Mol Genet Metab , vol.73 , pp. 160-163
    • Dong, J.1    Katz, D.R.2    Eng, C.M.3    Kornreich, R.4    Desnick, R.J.5
  • 6
    • 0343527349 scopus 로고    scopus 로고
    • Connexins, hearing and deafness: Clinical aspects of mutations in the connexin 26 gene
    • Lefebvre PP, Van De Water TR (2000) Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26 gene. Brain Res Brain Res Rev 32:159-162.
    • (2000) Brain Res Brain Res Rev , vol.32 , pp. 159-162
    • Lefebvre, P.P.1    Van De Water, T.R.2
  • 7
    • 0034961001 scopus 로고    scopus 로고
    • Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)
    • Lin D, Goldstein JA, Mhatre AN, Lustig LR, Pfister M, Lalwani AK (2001) Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2). Hum Mutat 18:42-51.
    • (2001) Hum Mutat , vol.18 , pp. 42-51
    • Lin, D.1    Goldstein, J.A.2    Mhatre, A.N.3    Lustig, L.R.4    Pfister, M.5    Lalwani, A.K.6
  • 10
    • 0032840844 scopus 로고    scopus 로고
    • Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method
    • Storm K, Willocx S, Flothmann K, Van Camp G (1999) Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method. Hum Mutat 14:263-266.
    • (1999) Hum Mutat , vol.14 , pp. 263-266
    • Storm, K.1    Willocx, S.2    Flothmann, K.3    Van Camp, G.4
  • 12
    • 0042694853 scopus 로고    scopus 로고
    • Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness
    • Wu BL, Kenna M, Lip V, Irons M, Platt O (2003) Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet A 121:102-108.
    • (2003) Am J Med Genet A , vol.121 , pp. 102-108
    • Wu, B.L.1    Kenna, M.2    Lip, V.3    Irons, M.4    Platt, O.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.