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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2008
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Research Article
Accesso online: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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