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Einfluss der Hämoglobinsynthese auf die Expression von Frataxin
2009
unpublished
Friedreichs ataxia is an autosomal recessive hereditary disease with an incidence of 1:50.000 and prevalence in the Caucasian population. The disease manifests itself in individuals carrying a GAA-repeat expansion within the first intron of the gene encoding the mitochondrial protein frataxin. This GAA-repeat expansion results in deficiency of this protein [DELATYCKI M. B. et al., 2000]. This deficiency leads to oxidative damage, impaired synthesis of the iron-sulfur-clusters, which results in
doi:10.25365/thesis.6910
fatcat:7kuppvq2nbfqnkvkl6nojck4zq