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Online Mendelian Inheritance in Man 'OMIM'.
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Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees.
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Rett syndrome: the complex nature of a monogenic disease.
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X-inactivation pattern in multiple tissues from two Leber's hereditary optic neuropathy (LHON) patients.
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The epidemiology of Leber hereditary optic neuropathy in the North East of England.
Am J Hum Genet. 2003 Feb;72(2):333-9. doi: 10.1086/346066. Epub 2002 Jan 7.
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From genotype to phenotype in Leber hereditary optic neuropathy: still more questions than answers.
J Neuroophthalmol. 2002 Dec;22(4):257-61. doi: 10.1097/00041327-200212000-00001.
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Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
Am J Med Genet. 2001 Jan 22;98(3):235-43. doi: 10.1002/1096-8628(20010122)98:3<235::aid-ajmg1086>3.0.co;2-o.
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Brain. 2001 Jan;124(Pt 1):209-18. doi: 10.1093/brain/124.1.209.
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A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy.
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The transmission/disequilibrium test and parental-genotype reconstruction for X-chromosomal markers.
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