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1
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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
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1. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988;242:1427-1430.
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Wallace, D.C.1
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2
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A new mtDNA mutation associated with Leber's hereditary optic neuropathy
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2. Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. A new mtDNA mutation associated with Leber's hereditary optic neuropathy. Am J Hum Genet. 1991;48:1147-1153.
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3
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Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
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3. Howell N, Bindoff LA, McCullough DA, et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet. 1991;49:939-950.
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Howell, N.1
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4
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0026337654
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Cytochrome b mutations in Leber hereditary optic neuropathy
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4. Johns DR, Neufeld MJ. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem Biophys Res Commun. 1991;181:1358-1364.
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Johns, D.R.1
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5
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0026531040
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Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy
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5. Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC. Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics. 1992;130:163-173.
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Brown, M.D.1
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Wallace, D.C.6
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6
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0026757115
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An ND-6 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
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6. Johns DR, Neufeld MJ, Park RD. An ND-6 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1992;187:1551-1557.
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Johns, D.R.1
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7
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Leber hereditary optic neuropathy: involvement of the ND1 gene and evidence for an intragenic suppressor mutation
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7. Howell N, Kubacka I, Xu M, McCullough DA. Leber hereditary optic neuropathy: involvement of the ND1 gene and evidence for an intragenic suppressor mutation. Am J Hum Genet. 1991;48:935-942.
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Howell, N.1
Kubacka, I.2
Xu, M.3
McCullough, D.A.4
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8
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0026036025
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Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
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8. Johns DR, Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun. 1991;174:1324-1330.
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Johns, D.R.1
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9
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A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual genetic etiology
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9. Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual genetic etiology. Am J Hum Genet. 1992;51:1218-1228.
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Mackey, D.1
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10
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0026702249
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Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases
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2791-2799.
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10. Brown MD, Voljavec AS, Lott MT, Macdonald I, Wallace DC. Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J. 1992:6:2791-2799.
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Brown, M.D.1
Voljavec, A.S.2
Lott, M.T.3
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Wallace, D.C.5
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11
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Diseases of the mitochondrial DNA
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11. Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem. 1992;61:1175-1212.
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Wallace, D.C.1
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12
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The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation
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12. Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991;111:750-762.
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Newman, N.J.1
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13
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Leber's hereditary optic neuropathy: clinical manifestations of the 3460 mutation
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13. Johns DR, Smith KH, Miller NR. Leber's hereditary optic neuropathy: clinical manifestations of the 3460 mutation. Arch Ophthalmol. 1992;110:1577-1581.
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Johns, D.R.1
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Miller, N.R.3
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14
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0027195652
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Leber's hereditary optic neuropathy: clinical manifestations of the 15257 mutation
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14. Johns DR, Smith KS, Savino PJ, Miller NR. Leber's hereditary optic neuropathy: clinical manifestations of the 15257 mutation. Ophthalmology. 1993;100:981-986.
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Johns, D.R.1
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Miller, N.R.4
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15
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0027502505
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Leber's hereditary optic neuropathy: clinical manifestations of the 14484 mutation
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15. Johns DR, Heher KL, Miller NR, Smith KH. Leber's hereditary optic neuropathy: clinical manifestations of the 14484 mutation. Arch Ophthalmol. 1993;111:495-498.
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Johns, D.R.1
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Smith, K.H.4
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16
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0024990480
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Improved molecular genetic diagnosis of Leber's hereditary optic neuropathy
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16. Johns DR. Improved molecular genetic diagnosis of Leber's hereditary optic neuropathy. N Engl J Med. 1990;323:1488-1489.
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Johns, D.R.1
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17
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Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy
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17. Stone EM, Coppinger JM, Kardon RH, Donelson J. Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy. Arch Ophthalmol. 1990;108:1417-1420.
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Stone, E.M.1
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Kardon, R.H.3
Donelson, J.4
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18
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0025820109
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X chromosome-linked and mitochondrial gene control of Leber's hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation
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18. Bu X, Rotter JI. X chromosome-linked and mitochondrial gene control of Leber's hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc Natl Acad Sci U S A. 1991;88:8198-8202.
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Bu, X.1
Rotter, J.I.2
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19
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0026034238
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Optic atrophy in Leber's hereditary optic neuropathy is probably determined by an X-chromosomal gene closely linked to DXS7
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19. Vilkki J, Ott J, Savontaus M-L, Aula P, Nikoskelainen EK. Optic atrophy in Leber's hereditary optic neuropathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet. 1991;48:486-491.
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Vilkki, J.1
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20
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0024380419
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Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis
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20. Chen J-D, Cox I, Denton MJ. Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis. Hum Genet. 1989;82:203-207.
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Chen, J-D.1
Cox, I.2
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21
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0023185081
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Leber's hereditary optic neuroretinopathy, a maternally inherited disease: a geneologic study in four pedigrees
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21. Nikoskelainen EK, Savontaus M-L, Wanne OP, Katila MJ, Nummelin KU. Leber's hereditary optic neuroretinopathy, a maternally inherited disease: a geneologic study in four pedigrees. Arch Ophthalmol. 1987;105:665-671.
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Nikoskelainen, E.K.1
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22
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Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia
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22. Cullom ME, Heher KL, Miller NR, Savino PJ, Johns DR. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. Arch Ophthalmol. 1993;111:1482-1485.
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Cullom, M.E.1
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Johns, D.R.5
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