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Volumn 18, Issue 2, 1997, Pages 101-105

Optic neuropathy associated with mitochondrial tRNALeu(UUR) A3243G mutation

Author keywords

Diabetes millitus with deafness; MELAS; Mitochondrial tRNALeu(UUR) A3243G mutation; Optic neuropathy

Indexed keywords

LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA;

EID: 0030756257     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.3109/13816819709057122     Document Type: Article
Times cited : (16)

References (10)
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  • 2
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    • Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stoke-like episodes). Biochem Biophys Res Commun 1990; 173: 816-822.
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  • 3
    • 0026906885 scopus 로고
    • Leu(UUR) in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • Leu(UUR) in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992; 1: 368-371.
    • (1992) Nat Genet , vol.1 , pp. 368-371
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  • 6
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    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and stoke-like episodes: A distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stoke-like episodes: a distinctive clinical syndrome. Ann Neurol 1984; 16: 481-488.
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  • 7
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    • Mitochondrial DNA mutation in the mitochondrial myopathy, encephalopathy, lactic acidosis, and stoke-like episodes (MELAS)
    • Tanaka M, Ino H, Ohno K, et al. Mitochondrial DNA mutation in the mitochondrial myopathy, encephalopathy, lactic acidosis, and stoke-like episodes (MELAS). Biochem Biophys Res Commun 1991; 174: 861-868.
    • (1991) Biochem Biophys Res Commun , vol.174 , pp. 861-868
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  • 8
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    • Mitochondrial encephalopathies: Molecular genetic diagnosis from blood samples
    • Hammans SR, Sweeney MG, Brockington M, et al. Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples. Lancet 1991; 337: 1311-1313.
    • (1991) Lancet , vol.337 , pp. 1311-1313
    • Hammans, S.R.1    Sweeney, M.G.2    Brockington, M.3
  • 9
    • 0025953999 scopus 로고
    • Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome
    • Leu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. Neurology 1991; 41: 1663-1665.
    • (1991) Neurology , vol.41 , pp. 1663-1665
    • Ciafaloni, E.1    Ricci, E.2    Servidei, S.3
  • 10
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    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.