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Clinical characterization and mitochondrial DNA sequence variations in Leber hereditary optic neuropathy

PURPOSE: Leber hereditary optic neuropathy (LHON), a maternally inherited disorder, results from point mutations in mitochondrial DNA (mtDNA). MtDNA is highly polymorphic in nature with very high mutation rate, 10–17 fold higher as compared to nuclear genome. Identification of new mtDNA sequence var...

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Autores principales: Kumar, Manoj, Kaur, Punit, Saxena, Rohit, Sharma, Pradeep, Dada, Rima
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2012
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501276/
https://ncbi.nlm.nih.gov/pubmed/23170061
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