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Volumn 30, Issue 10, 2009, Pages 1469-1470

The c.-103T>C Variant in the 5'-UTR of SLC26A4 Gene: A pathogenic mutation or coincidental polymorphism?

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SLC26A4 PROTEIN, HUMAN;

EID: 73349102851     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21097     Document Type: Letter
Times cited : (3)

References (9)
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  • 5
    • 1442323994 scopus 로고    scopus 로고
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    • Hamelink, C.1    Hahm, S.H.2    Huang, H.3    Eiden, L.E.4
  • 6
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    • A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss
    • Pera A, Villamar M, Vinuela A, Gandia M, Meda C, Moreno F, Hernandez-Chico C. 2008. A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss. Eur J Hum Genet 16:888-896.
    • (2008) Eur J Hum Genet , vol.16 , pp. 888-896
    • Pera, A.1    Villamar, M.2    Vinuela, A.3    Gandia, M.4    Meda, C.5    Moreno, F.6    Hernandez-Chico, C.7
  • 7
    • 0033080781 scopus 로고    scopus 로고
    • Regulation of estrogen receptor alpha gene mediated by promoter B responsible for its enhanced expressionin human breast cancer
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  • 8
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    • Cell-specific expression of the human gastrin gene: evidence for a control element located downstream of the TATA box
    • Theill LE, Wiborg O, Vuust J. 1987. Cell-specific expression of the human gastrin gene: evidence for a control element located downstream of the TATA box. Mol Cell Biol 7:4329-4336.
    • (1987) Mol Cell Biol , vol.7 , pp. 4329-4336
    • Theill, L.E.1    Wiborg, O.2    Vuust, J.3
  • 9
    • 34250803246 scopus 로고    scopus 로고
    • Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)
    • Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ. 2007. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 80:1055-1063.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.