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Volumn 240, Issue 2, 2002, Pages 96-100

A mutational hot spot in the mithochondrial ND6 gene in patients with Leber's hereditary optic neuropathy

Author keywords

[No Author keywords available]

Indexed keywords

ISOLEUCINE; METHIONINE; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN;

EID: 0036938993     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-001-0423-1     Document Type: Article
Times cited : (15)

References (17)
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  • 6
    • 0029967483 scopus 로고    scopus 로고
    • Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
    • De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA (1996) Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. Am J Hum Genet 58:703-711
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 703-711
    • De Vries, D.D.1    Went, L.N.2    Bruyn, G.W.3    Scholte, H.R.4    Hofstra, R.M.5    Bolhuis, P.A.6    van Oost, B.A.7
  • 7
    • 0035038050 scopus 로고    scopus 로고
    • Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population
    • Dogulu CF, Kansu T, Seyrantepe V, Ozguc M, Topaloglu H, Johns DR (2001) Mitochondrial DNA analysis in the Turkish Leber's hereditary optic neuropathy population. Eye 15:183-188
    • (2001) Eye , vol.15 , pp. 183-188
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  • 8
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    • Mitochondrial gene mutations and human diseases: A prolegomenon
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    • Howell, N.1
  • 11
    • 0026757115 scopus 로고
    • An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
    • Johns DR, Neufeld MJ, Park RD (1992) An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Commun 187:1551-1557
    • (1992) Biochem. Biophys. Res. Commun. , vol.187 , pp. 1551-1557
    • Johns, D.R.1    Neufeld, M.J.2    Park, R.D.3
  • 12
    • 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
    • Jun AS, Brown MD, Wallace DC (1994) 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. Proc Natl Acad Sci USA 91:6206-6210
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 6206-6210
    • Jun, A.S.1    Brown, M.D.2    Wallace, D.C.3
  • 14
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    • Leber's hereditary optic neuropathy: Clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene
    • Leo-Kottler B, Christ-Adler M, Baumann B, Zrenner E, Wissinger B (1996) Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene. Ger J Ophthalmol. 5:233-240
    • (1996) Ger. J. Ophthalmol. , vol.5 , pp. 233-240
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  • 15
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    • A simple salting out procedure for extracting DNA from human nucleated cells
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.