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Volumn 1659, Issue 2-3, 2004, Pages 129-135

Molecular diagnostics of mitochondrial disorders

Author keywords

Molecular diagnosis; mtDNA; Nuclear genes

Indexed keywords

MITOCHONDRIAL DNA;

EID: 9644281098     PISSN: 00052728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbabio.2004.07.007     Document Type: Conference Paper
Times cited : (36)

References (30)
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    • S.L. Williams, J.W. Taanman, H. Hansikova, H. Houst'kova, S. Chowdhury, J. Zeman, and J. Houstek A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis Mol. Genet. Metab. 73 2001 340 343
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  • 16
    • 0142154270 scopus 로고    scopus 로고
    • Mutations in COX10 result in a defect in mitochondrial heme a biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
    • H. Antonicka, S.C. Leary, G.H. Guercin, J.N. Agar, R. Horvath, N.G. Kennaway, C.O. Harding, M. Jaksch, and E.A. Shoubridge Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency Hum. Mol. Genet. 12 2003 2693 2702
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 2693-2702
    • Antonicka, H.1    Leary, S.C.2    Guercin, G.H.3    Agar, J.N.4    Horvath, R.5    Kennaway, N.G.6    Harding, C.O.7    Jaksch, M.8    Shoubridge, E.A.9
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    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
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    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.J.4    Van Broeckhoven, C.5
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    • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
    • A. Saada, A. Shaag, H. Mandel, Y. Nevo, S. Eriksson, and O. Elpeleg Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy Nat. Genet. 29 2001 342 344
    • (2001) Nat. Genet. , vol.29 , pp. 342-344
    • Saada, A.1    Shaag, A.2    Mandel, H.3    Nevo, Y.4    Eriksson, S.5    Elpeleg, O.6
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    • http://www.mitomap.org/.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.