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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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Autors principals: Kumar, Manoj, Kaur, Punit, Saxena, Rohit, Sharma, Pradeep, Dada, Rima
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501276/
https://ncbi.nlm.nih.gov/pubmed/23170061
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