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Nature genetics, ISSN 1061-4036, 1999, Volume 23, Issue 2, pp. 217 - 221
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/1994, Volume 31, Issue 4, pp. 280 - 286
Journal Article
Human genetics, ISSN 0340-6717, 1996, Volume 97, Issue 4, pp. 500 - 505
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder of the optic nerves. It has been proposed that the specific mutations in the... 
PEDIGREES | GENE | NEURORETINOPATHY | ATROPHY | FAMILIES | MUTATION | SUSCEPTIBILITY | GENETICS & HEREDITY | LINKAGE | Optic Atrophies, Hereditary - genetics | Pedigree | Humans | Female | Male | X Chromosome - genetics | Genetic Carrier Screening | Genetic Linkage | Index Medicus
Journal Article
HUMAN GENETICS, ISSN 0340-6717, 09/1994, Volume 94, Issue 3, pp. 265 - 270
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease of the optic nerves associated with various mitochondrial DNA (mtDNA) mutations.... 
PEDIGREES | CLINICAL MANIFESTATIONS | GENE | COMPLEX-I | NEURORETINOPATHY | GENOTYPE | HETEROPLASMY | FAMILIES | GENETICS & HEREDITY | MITOCHONDRIAL-DNA MUTATION | Leber's optic atrophy | mutation | pathogenesis | man | mitochondrial DNA
Journal Article
Human genetics, ISSN 0340-6717, 1994, Volume 94, Issue 3, pp. 265 - 270
Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease of the optic nerves associated with various mitochondrial DNA (mtDNA) mutations.... 
Optic Atrophies, Hereditary - genetics | Humans | Male | Incidence | Optic Atrophies, Hereditary - epidemiology | DNA, Mitochondrial - genetics | DNA Mutational Analysis | Pedigree | Adolescent | Polymerase Chain Reaction | Adult | Female | Mutation | Child | Index Medicus
Journal Article
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 1990, Volume 170, Issue 3, pp. 994 - 997
Mitochondrial DNA isolated from white blood cells was investigated in families suffering from Leber's hereditary optic neuropathy. A recently described... 
Diagnosis, Differential | Optic Atrophies, Hereditary - genetics | Hereditary Sensory and Motor Neuropathy - genetics | Humans | Genotype | Male | DNA, Mitochondrial - analysis | DNA, Mitochondrial - genetics | Time Factors | Leukocytes - analysis | Female | Mutation | Optic Atrophies, Hereditary - diagnosis | mitochondria | DNA | Index Medicus
Journal Article
Nederlands tijdschrift voor geneeskunde, ISSN 0028-2162, 07/1995, Volume 139, Issue 26, p. 1327
Leber hereditary optic neuropathy (LHON) is a heritable disorder, clinically characterized by rapidly progressive loss of central vision due to severe... 
Point Mutation | Optic Atrophies, Hereditary - genetics | DNA, Mitochondrial - genetics | Pedigree | Humans | Middle Aged | X Chromosome | Adult | Female | Male | Genetic Carrier Screening
Journal Article
Human genetics, ISSN 0340-6717, 1991, Volume 88, Issue 2, pp. 162 - 166
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 1989, Volume 10, Issue 1, pp. 73 - 74
Journal Article
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