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Volumn 52, Issue 6, 2007, Pages 549-552

A novel DFNA5 mutation does not cause hearing loss in an Iranian family

Author keywords

DFNA5; Gain of function mutation; Hearing loss

Indexed keywords

ARTICLE; DFNA5 GENE; EXON; FRAMESHIFT MUTATION; GENE; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; HEARING LOSS; HUMAN; IRAN; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE;

EID: 34249722273     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0137-2     Document Type: Article
Times cited : (25)

References (8)
  • 2
    • 9544220660 scopus 로고    scopus 로고
    • Mapping genomic deletions down to the base: A quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.
    • Duno M, Hove H, Kirchhoff M, Devriendt K, Schwartz M (2004) Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion. Hum Genet 115:459-467
    • (2004) Hum Genet , vol.115 , pp. 459-467
    • Duno, M.1    Hove, H.2    Kirchhoff, M.3    Devriendt, K.4    Schwartz, M.5
  • 3
    • 0037630746 scopus 로고    scopus 로고
    • A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.
    • Gregan J, Van Laer L, Lieto LD, Van Camp G, Kearsey SE (2003) A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment. Biochim Biophys Acta 1638:179-186
    • (2003) Biochim Biophys Acta , vol.1638 , pp. 179-186
    • Gregan, J.1    Van Laer, L.2    Lieto, L.D.3    Van Camp, G.4    Kearsey, S.E.5
  • 8
    • 0141957280 scopus 로고    scopus 로고
    • A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family.
    • Yu C, Meng X, Zhang S, Zhao G, Hu L, Kong X (2003) A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family. Genomics 82:575-579
    • (2003) Genomics , vol.82 , pp. 575-579
    • Yu, C.1    Meng, X.2    Zhang, S.3    Zhao, G.4    Hu, L.5    Kong, X.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.