Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers

OBJECTIVES: Leber’s hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by a variable and reduced penetrance. Individuals carrying a primary LHON-causing mitochondrial DNA (mtDNA) mutation may either remain asymptomatic lifelong, as unaffected carriers, or develop sud...

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Detalhes bibliográficos
Publicado no:BMC Res Notes
Main Authors: Bianco, Angelica, Valletti, Alessio, Longo, Giovanna, Bisceglia, Luigi, Montoya, Julio, Emperador, Sonia, Guerriero, Silvana, Petruzzella, Vittoria
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Data Note
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6302380/
https://ncbi.nlm.nih.gov/pubmed/30572950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-018-4025-y
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