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Autor:
Nadine Gigarel, Arnold Munnich, Jean-Paul Bonnefont, Nelly Frydman, Philippe Burlet, Pierre F. Ray, Sophie Lebon, Ghislaine Royer, Julie Steffann, René Frydman
Publikováno v:
Molecular genetics and metabolism. 84(3)
When a mitochondrial DNA (mtDNA) mutation is identified, the reliable and sensitive quantification of the mutation load is a prerequisite for evaluating the feasibility of prenatal/pregestational diagnosis of the disease. We have developed a quantifi