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Journal Abstract Search

179 related items for PubMed ID: 1322638

  • 1. A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I.
    Brown MD, Yang CC, Trounce I, Torroni A, Lott MT, Wallace DC.
    Am J Hum Genet; 1992 Aug; 51(2):378-85. PubMed ID: 1322638
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  • 2. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.
    Johns DR, Neufeld MJ.
    Biochem Biophys Res Commun; 1993 Oct 29; 196(2):810-5. PubMed ID: 8240356
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  • 6. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.
    Jun AS, Trounce IA, Brown MD, Shoffner JM, Wallace DC.
    Mol Cell Biol; 1996 Mar 29; 16(3):771-7. PubMed ID: 8622678
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  • 8. Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).
    Johns DR, Neufeld MJ.
    Am J Hum Genet; 1993 Oct 29; 53(4):916-20. PubMed ID: 8213820
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  • 9. 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.
    Am J Hum Genet; 1996 Apr 29; 58(4):703-11. PubMed ID: 8644732
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  • 12. Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.
    Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B.
    Biochem Biophys Res Commun; 1997 May 19; 234(2):511-5. PubMed ID: 9177303
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  • 13. 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.
    Ger J Ophthalmol; 1996 Jul 19; 5(4):233-40. PubMed ID: 8854108
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  • 18. The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.
    Huoponen K, Lamminen T, Juvonen V, Aula P, Nikoskelainen E, Savontaus ML.
    Hum Genet; 1993 Oct 19; 92(4):379-84. PubMed ID: 7901141
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  • 19. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.
    Zhu DP, Economou EP, Antonarakis SE, Maumenee IH.
    Am J Med Genet; 1992 Jan 15; 42(2):173-9. PubMed ID: 1346348
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