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Volumn 50, Issue 1, 2001, Pages 104-107

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0034955881     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1084     Document Type: Article
Times cited : (83)

References (20)
  • 4
    • 0030788483 scopus 로고    scopus 로고
    • Leber hereditary optic neuropathy: How do mitochondrial DNA mutations cause degeneration of the optic nerve?
    • (1997) J Bioenerg Biomembr , vol.29 , pp. 165-173
    • Howell, N.1
  • 5
    • 0028342847 scopus 로고
    • A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 8
    • 0032707838 scopus 로고    scopus 로고
    • The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS
    • (1999) Ann Neurol , vol.46 , pp. 916-919
    • Pulkes, T.1    Eunson, L.2    Patterson, V.3
  • 10
    • 0001104685 scopus 로고    scopus 로고
    • Laboratory diagnosis of mitochondrial disease
    • Applegarth DA, Dimmick J, Hall JG, editors. Organelle diseases. London: Chapman and Hall
    • (1997)
    • Taylor, R.W.1    Turnbull, D.M.2
  • 18
    • 0028889974 scopus 로고
    • Efficient selection and characterization of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase
    • (1995) Mol Cell Biol , vol.15 , pp. 964-974
    • Hofhaus, G.1    Attardi, G.2
  • 19
    • 0033362085 scopus 로고    scopus 로고
    • A mtDNA mutation in the initiation codon of the cytochrome c oxidase sub-unit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy
    • (1999) Am J Hum Genet , vol.64 , pp. 1330-1339
    • Clark, K.M.1    Taylor, R.W.2    Johnson, M.A.3
  • 20
    • 0026608057 scopus 로고
    • MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no changes in levels of upstream or downstream mature transcripts
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4221-4225
    • Chomyn, A.1    Martinuzzi, A.2    Yoneda, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.