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New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

BACKGROUND: The A3243G mutation in the tRNALeu gene (UUR), is one of the most common pathogenic mitochondrial DNA (mtDNA) mutations in France, and is associated with highly variable and heterogeneous disease phenotypes. To define the relationships between the A3243G mutation and mtDNA backgrounds, w...

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Autors principals: Pierron, Denis, Rocher, Christophe, Amati-Bonneau, Patricia, Reynier, Pascal, Martin-Négrier, Marie-Laure, Allouche, Stéphane, Batandier, Cécile, de Camaret, Benedicte Mousson, Godinot, Catherine, Rotig, Agnes, Feldmann, Delphine, Bellanne-Chantelot, Christine, Arveiler, Benoit, Pennarun, Erwann, Rossignol, Rodrigue, Crouzet, Marc, Murail, Pascal, Thoraval, Didier, Letellier, Thierry
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2008
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2409300/
https://ncbi.nlm.nih.gov/pubmed/18462486
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-9-41
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