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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Detalles Bibliográficos
Autores principales: Kumar, Manoj, Kaur, Punit, Saxena, Rohit, Sharma, Pradeep, Dada, Rima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501276/
https://www.ncbi.nlm.nih.gov/pubmed/23170061

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