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Volumn 52, Issue 9, 1999, Pages 1905-1908

Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; TRANSFER RNA;

EID: 0032976423     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.52.9.1905     Document Type: Article
Times cited : (161)

References (10)
  • 1
    • 0027226069 scopus 로고
    • Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
    • Prezant TR, Agapian JV, Bohlman MC, et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993;4:289-294.
    • (1993) Nat Genet , vol.4 , pp. 289-294
    • Prezant, T.R.1    Agapian, J.V.2    Bohlman, M.C.3
  • 2
    • 0028288558 scopus 로고
    • A novel mitochondrial mutation in a maternal pedigree with sensorineural deafness
    • Reid F, Vernhara G, Jacobs H. A novel mitochondrial mutation in a maternal pedigree with sensorineural deafness. Hum Mutat 1994;3:243-247.
    • (1994) Hum Mutat , vol.3 , pp. 243-247
    • Reid, F.1    Vernhara, G.2    Jacobs, H.3
  • 5
    • 0026718556 scopus 로고
    • Leu(UUR) mutation in mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes: Genetic, biochemical, and morphological correlations in skeletal muscle
    • Leu(UUR) mutation in mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes: genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 1992;50:934-949.
    • (1992) Am J Hum Genet , vol.50 , pp. 934-949
    • Moraes, C.T.1    Ricci, E.2    Bonilla, E.3    DiMauro, S.4    Schon, E.A.5
  • 6
    • 0032519307 scopus 로고    scopus 로고
    • Automating the identification of DNA variations using quality-based fluorescence resequencing: Analysis of the human mitochondrial genome
    • Rieder M, Taylor S, Tove V, Nickerson D. Automating the identification of DNA variations using quality-based fluorescence resequencing: analysis of the human mitochondrial genome. Nucleic Acids Res 1998;26:967-973.
    • (1998) Nucleic Acids Res , vol.26 , pp. 967-973
    • Rieder, M.1    Taylor, S.2    Tove, V.3    Nickerson, D.4
  • 8
    • 0029145589 scopus 로고
    • Ser(UCN) gene detected in a family with MERRF/MELAS overlap syndrome
    • Ser(UCN) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Comm 1995;214:86-93.
    • (1995) Biochem Biophys Res Comm , vol.214 , pp. 86-93
    • Nakamura, M.1    Nakano, S.2    Goto, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.