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Volumn 8, Issue 4, 2004, Pages 384-386

A combined allele-specific PCR and RFLP assay to detect the 35delG mutation in the Connexin 26 gene

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26;

EID: 11444266011     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.2004.8.384     Document Type: Article
Times cited : (3)

References (12)
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  • 2
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    • BARIS, I., KILINC, M.O., and TOLUN, A. (2001). Frequency of the 35delG mutation in the connexin 26 gene in Turkish hearing-impaired patients. Clin. Genet. 60, 452-455.
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  • 3
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    • Multiplex detection of common mutations in the connexin-26 gene
    • BARIS, I. and KÖKSAL, V. (2003). Multiplex Detection of Common Mutations in the Connexin-26 Gene. Genet. Test. 7, 63-65.
    • (2003) Genet. Test. , vol.7 , pp. 63-65
    • Baris, I.1    Köksal, V.2
  • 4
    • 9844252338 scopus 로고    scopus 로고
    • Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
    • DENOYELLE, F., WEIL, D., MAW, M.A., et al. (1997). Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum. Mol. Genet. 6, 2173-2177.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 2173-2177
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  • 5
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  • 6
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    • Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive non-syndromic hearing loss
    • KELLEY, P.M., HARRIS, D.J., COMER, B.J., et al. (1998). Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive non-syndromic hearing loss. Am. J. Hum. Genet. 62, 792-799.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 792-799
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  • 7
    • 0345055300 scopus 로고    scopus 로고
    • Connexin-26 mutations in sporadic non-syndromal sensorineural deafness
    • LENCH, N., HOUSEMAN, M., NEWTON, V., et al. (1998). Connexin-26 mutations in sporadic non-syndromal sensorineural deafness. Lancet 351, 415.
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  • 8
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    • LUCOTTE G, BATHELIER C, CHAMPENOIS T. (2001). PCR test for diagnosis of the common GJB2 (connexin 26) 35delG mutation on dried blood spots and determination of the carrier frequency in France. Mol. Cell Probes 15, 57-59.
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  • 9
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  • 10
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    • SCOTT, D.A., KRAFT, M.L., CARMI, R., et al. (1998). Identification of mutations in the connexin 26 gene that cause autosomal recessive non-syndromic hearing loss. Hum. Mutat. 11, 387-394.
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  • 11
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  • 12
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.