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Volumn 47, Issue 4, 2003, Pages 409-411

OPA1 gene mutations in Japanese patients with bilateral optic atrophy unassociated with mitochondrial DNA mutations at nt 11778, 3460, and 14484

Author keywords

Bilateral optic atrophy; Japanese patients; OPA1 gene mutations

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0038723230     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-5155(03)00056-X     Document Type: Article
Times cited : (9)

References (7)
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    • (2000) Nat Genet , vol.26 , pp. 207-210
    • Delettre, C.1    Lenaers, G.2    Griffoin, J.M.3
  • 2
    • 0033772264 scopus 로고    scopus 로고
    • OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
    • Alexander C., Votruba M., Pesch U.E.A., et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 26:2000;211-215.
    • (2000) Nat Genet , vol.26 , pp. 211-215
    • Alexander, C.1    Votruba, M.2    Pesch, U.E.A.3
  • 3
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    • Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
    • Toomes C., Marchbank N.J., Mackey D.A., et al. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet. 10:2001;1369-1378.
    • (2001) Hum Mol Genet , vol.10 , pp. 1369-1378
    • Toomes, C.1    Marchbank, N.J.2    Mackey, D.A.3
  • 4
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    • Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11778
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    • (1998) J Hum Genet , vol.43 , pp. 242-245
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  • 5
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    • Prediction of the coding sequences of unidentified human genes, IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro
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  • 6
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    • Functional diversity in the dynamin family
    • van der Bliek A.M. Functional diversity in the dynamin family. Trends Cell Biol. 9:1999;96-102.
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  • 7
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    • Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology
    • Misaka T., Miyashita T., Kubo Y. Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology. J Biol Chem. 277:2002;15834-15842.
    • (2002) J Biol Chem , vol.277 , pp. 15834-15842
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.